PDA

View Full Version : Polygenic Inheritance of AIS



LindaRacine
05-01-2010, 06:45 PM
Am J Med Genet A. 2010 May;152A(5):1178-88.
Polygenic inheritance of adolescent idiopathic scoliosis: a study of extended families in Utah.

Ward K, Ogilvie J, Argyle V, Nelson L, Meade M, Braun J, Chettier R.

Axial Biotech, Inc., Salt Lake City, Utah 84109, USA. ken.ward@axialbiotech.com
Abstract

A heritability study of 69 extended Utah families with a history of adolescent idiopathic scoliosis (AIS) indicates that AIS is a polygenic, multifactorial condition. Each family reported a history of AIS within four generations; a total of 247 individuals were confirmed via X-rays and medical records to have AIS. Coefficient of kinship was more than 25 standard deviations higher for these 69 families than for the general population. Excluding all probands and assuming autosomal dominant inheritance, 1,260 individuals over the age of 16 were determined to be at risk for AIS because they have a parent with AIS. Assuming 50% of these individuals carry the allele, estimated penetrance in at-risk males is approximately 9%, and estimated penetrance in at-risk females is approximately 29%. Recurrence risk in relatives decreases as the degree of relationship to the affected individual becomes more distant; however, the lowest recurrence risk calculated, for third-degree relatives, is still an average of 9%, well above the general population's risk. Onset of AIS appears to be inherited separate from curve pattern and severity. In a study of phenotypes in 36 of the families, the affected individuals were consistent in either curve severity or curve pattern, but not both. It is unclear whether severity or pattern is more heritable, but it is possible that the location of the curve on the spine is the most heritable trait of the phenotype. The study demonstrates the genetic complexity of AIS, including the low penetrance of its cumulative alleles and variable expression. Copyright 2010 Wiley-Liss, Inc.

Pooka1
05-01-2010, 07:58 PM
Welp, the germ theory of scoliosis just took a kick to the groin. ;)

titaniumed
05-01-2010, 08:29 PM
Wow. Poor Utah.

The people of southern Utah also had, and have to deal with all the atomic fallout from all the "shots" (nukes) that were tested in southern Nevada through the years.

The winds almost always blow east.....
Ed

Dingo
05-01-2010, 09:35 PM
The study demonstrates the genetic complexity of AIS, including the low penetrance of its cumulative alleles and variable expression.

Variable expression? I assume he is trying to say that sometimes a gene causes AIS, sometimes it doesn't. Well, that's one possible explanation. Another explanation is that these genes don't cause AIS. They create susceptability to the environmental damage that does.

A while back people thought MS was caused by genetics. Today scientists know that's not true. Genes create susceptability but the disease is triggered by the environment.

April 29th, 2010: MS Study Suggests Key Role of Environmental Factor in the Disease (http://www.sciencedaily.com/releases/2010/04/100428142256.htm)


Scientists are reporting what they say is compelling evidence that some powerful non-heritable, environmental factor likely plays a key role in the development of multiple sclerosis.


The study was the first to examine all three levels of a human genome at the same time, giving the first full picture of a living genome.


"Even with the very high resolution at which we sequenced the genomes of our study participants, we did not find evidence for genetic, or epigenetic differences that explained why one sibling developed the disease and the other did not," says the lead author of the study, Sergio Baranzini, PhD, associate adjunct professor of neurology and a member of the Multiple Sclerosis Research Group at University of California, San Francisco.

I look forward to a time when technology this advanced is used on twins with and without Scoliosis. I'm confident the findings will be similar.

Pooka1
05-01-2010, 09:45 PM
Variable expression? I assume he is trying to say that sometimes a gene causes AIS, sometimes it doesn't.

No. It means exactly what it says.

http://www.scientificamerican.com/article.cfm?id=ethnic-differences-traced

Pooka1
05-01-2010, 09:49 PM
Clearly this stuff is not only more complicated than a lay person supposes but is more complicated than a lay person can suppose.

Apologies to J.B. S. Haldane who famously said:

"My own suspicion is that the Universe is not only queerer than we suppose, but queerer than we can suppose."

rohrer01
05-01-2010, 11:15 PM
Variable expression means it can be expressed in different ways. The human genome project has only recently been completed, I think. There is so much to learn from here on out. These things take time. I think that the term "gene" is being thrown around too lightly. That is why scientists use the term allele in describing a factor that causes a trait. DNA sequences are very complex, and it is not only the sequence of bases - what we think of as a gene or allele - but there are a whole cascade of other surrounding sequences that can activate or deactivate the gene product (a protien or part of a protein). Like Pooka1 said, way too complicated for the layperson, unless of course, the person is extremely dedicated to learning these things. Take a course in Molecular Biology and also endocrinology, yes I said it ... endocrinology... It will blow you away!

rohrer01
05-01-2010, 11:19 PM
Am J Med Genet A. 2010 May;152A(5):1178-88.
Polygenic inheritance of adolescent idiopathic scoliosis: a study of extended families in Utah.

Ward K, Ogilvie J, Argyle V, Nelson L, Meade M, Braun J, Chettier R.

Axial Biotech, Inc., Salt Lake City, Utah 84109, USA. ken.ward@axialbiotech.com
Abstract

A heritability study of 69 extended Utah families with a history of adolescent idiopathic scoliosis (AIS) indicates that AIS is a polygenic, multifactorial condition. Each family reported a history of AIS within four generations; a total of 247 individuals were confirmed via X-rays and medical records to have AIS. Coefficient of kinship was more than 25 standard deviations higher for these 69 families than for the general population. Excluding all probands and assuming autosomal dominant inheritance, 1,260 individuals over the age of 16 were determined to be at risk for AIS because they have a parent with AIS. Assuming 50% of these individuals carry the allele, estimated penetrance in at-risk males is approximately 9%, and estimated penetrance in at-risk females is approximately 29%. Recurrence risk in relatives decreases as the degree of relationship to the affected individual becomes more distant; however, the lowest recurrence risk calculated, for third-degree relatives, is still an average of 9%, well above the general population's risk. Onset of AIS appears to be inherited separate from curve pattern and severity. In a study of phenotypes in 36 of the families, the affected individuals were consistent in either curve severity or curve pattern, but not both. It is unclear whether severity or pattern is more heritable, but it is possible that the location of the curve on the spine is the most heritable trait of the phenotype. The study demonstrates the genetic complexity of AIS, including the low penetrance of its cumulative alleles and variable expression. Copyright 2010 Wiley-Liss, Inc.

Finally!! I think it is even more complicated than this, since girls fare worse than boys for the most part (excluding titaniumEd, of course :)).

rohrer01
05-01-2010, 11:21 PM
Like I mentioned earlier, I think they should start looking at it from an endocrinological point of view as well, if it is not sex linked. It's a known fact that women have different hormones than men and this must play a role in why girls get a worse slam than most boys.

Pooka1
05-01-2010, 11:27 PM
The genetic complexity associated with AIS probably can appear as germ theory to the lay person.

As the following quote attributed to Socrates goes:

“True knowledge exists in knowing that you know nothing.”

rohrer01
05-01-2010, 11:37 PM
The genetic complexity associated with AIS probably can appear as germ theory to the lay person.

As the following quote attributed to Socrates goes:

“True knowledge exists in knowing that you know nothing.”

I feel a little bad because I'm not trying to create class distinctions between the "educated" and the layperson. There are plenty of "laypeople" that have IQ's well above many "educated" people. It is just all in opportunity and what is important to a person in life. Not everyone wants to go to college and that's okay. But for those of us who have, the quote above really does apply. The more you know, the more you realize you don't know. That is why medicine is a "practice". ;)

Pooka1
05-01-2010, 11:41 PM
I feel a little bad because I'm not trying to create class distinctions between the "educated" and the layperson. There are plenty of "laypeople" that have IQ's well above many "educated" people. It is just all in opportunity and what is important to a person in life. Not everyone wants to go to college and that's okay. But for those of us who have, the quote above really does apply. The more you know, the more you realize you don't know. That is why medicine is a "practice". ;)

Agreed.

There is a difference between intelligence and knowledge. It doesn't matter how intelligent you are if you don't have specific knowledge. This genetic variance business really makes that point crystal clear.

rohrer01
05-02-2010, 02:26 AM
Dingo,
I must give you credit for your efforts to keep up with this research. You are obviously an intelligent man. If you are near a university somewhere, perhaps ASU, NAU or UofA, sometimes a professor will be nice enough to just let you sit in without taking a survey of the class (which you have to pay for). If you could just sit through a class of basic genetics (I mean the whole semester - not just one class), it will greatly help you to understand some of these terms and concepts. If not, you can go to the book store and many times the universities just give away old texts (especially at the end of a semester). I have collected many books that way. If you can get your hands on a genetics textbook and really study it through, it will help you a LOT to understand what is going on with your son. I hope this helps and is not offensive to you in any way.:)

rohrer01
05-02-2010, 02:50 AM
Genes create susceptability but the disease is triggered by the environment.


I look forward to a time when technology this advanced is used on twins with and without Scoliosis. I'm confident the findings will be similar.

Dingo, I am only partially quoting you to make a point. What you say here may be true for some diseases, but it is a proven FACT that it doesn't hold true with all genetic disorders. Down's Syndrome is a genetic disease causeed by a trisomy (meaning there are three copies of a chromosome). However, genetics is more complicated than that. During cell division, sometimes there is not a complete trisomy and only a partial where a piece of one chromosome attaches itself to another chromosome. If it is the right peice, you can still have a child with Down's Syndrome. There is nothing that can trigger someone with this genetic makeup to suddenly express the symptoms of Down's Syndrome. Either the child has it or he/she doesn't. What the environment can do is if the child is worked with intensely, then the child's full intellectual potential can be brought out. This does not negate the fact that the child has Down's Syndrome with all of it's risks including heart problems. If a person with Down's Syndrom has a child with a non-down's person. The baby has a 50/50 chance of having Down's. Genetic disorders are not always triggered by something in the environment. Some are, but a vast amount are not. I think that you are trying to prove in your mind somehow that scoliosis could have been avoided if....
The more research that is done seems to dispel this belief of yours. Accepting the fact that scoliosis is a genetic disorder will relieve you of any guilt you may be feeling about the what if's. My only guilt in knowing my daughter has scoliosis lies in the fact that I have scoliosis and I passed it on. We can't avoid passing our genetics on to our offspring. Your son's darker skin that you mentioned earlier is simply due to the fact that you live in a hotter climate and he gets more sun exposure at an earlier age, than perhaps you or your wife. Another possibility is that either you or your wife have a dark skinned person in your ancestry, which most, if not ALL of us do. I hope this helps you to understand a little bit of what I'm talking about. I'm certainly not trying to be condescending in any way. It's just hard to give a genetics 101 in a forum. Don't be disappointed to find out it is hereditary, so many good things are, too. Be proud of the little guy and stop beating yourself up over environment, which likely plays very little role in this disease.

Pooka1
05-02-2010, 09:54 AM
Dingo, I am only partially quoting you to make a point. What you say here may be true for some diseases, but it is a proven FACT that it doesn't hold true with all genetic disorders. Down's Syndrome is a genetic disease causeed by a trisomy (meaning there are three copies of a chromosome). However, genetics is more complicated than that. During cell division, sometimes there is not a complete trisomy and only a partial where a piece of one chromosome attaches itself to another chromosome. If it is the right peice, you can still have a child with Down's Syndrome. There is nothing that can trigger someone with this genetic makeup to suddenly express the symptoms of Down's Syndrome. Either the child has it or he/she doesn't. What the environment can do is if the child is worked with intensely, then the child's full intellectual potential can be brought out. This does not negate the fact that the child has Down's Syndrome with all of it's risks including heart problems. If a person with Down's Syndrom has a child with a non-down's person. The baby has a 50/50 chance of having Down's. Genetic disorders are not always triggered by something in the environment. Some are, but a vast amount are not. I think that you are trying to prove in your mind somehow that scoliosis could have been avoided if....
The more research that is done seems to dispel this belief of yours. Accepting the fact that scoliosis is a genetic disorder will relieve you of any guilt you may be feeling about the what if's. My only guilt in knowing my daughter has scoliosis lies in the fact that I have scoliosis and I passed it on. We can't avoid passing our genetics on to our offspring. Your son's darker skin that you mentioned earlier is simply due to the fact that you live in a hotter climate and he gets more sun exposure at an earlier age, than perhaps you or your wife. Another possibility is that either you or your wife have a dark skinned person in your ancestry, which most, if not ALL of us do. I hope this helps you to understand a little bit of what I'm talking about. I'm certainly not trying to be condescending in any way. It's just hard to give a genetics 101 in a forum. Don't be disappointed to find out it is hereditary, so many good things are, too. Be proud of the little guy and stop beating yourself up over environment, which likely plays very little role in this disease.

Beautifully worded. Right on point. You are such an asset to the group with your training.

As I said before, we only have two people with any relevant training to my knowledge and Pnuttro can only do so much edifying before exasperation sets in. To her great credit, she tries. But who could have anticipated such an ardent folkscientist trying to prove his pet hypotheses would come on here? I suggest nobody. And what is the point? We aren't sitting here deciding which research to fund. We have scientists, not folkscientists, doing that. There is a reason for that.

Pooka1
05-02-2010, 10:50 AM
http://genomemedicine.com/content/2/2/10/


Conclusions

In this paper we set out to compare different models that combine the effects of multiple risk loci into an overall genetic risk. We conclude that a model that is additive or multiplicative on the risk scale across all loci is incompatible with the observed recurrence risks to relatives. The constrained multiplicative (CRisch), Odds and Probit models are all compatible with the observed data and, in fact, it is difficult to distinguish between them when the relative risk at an individual locus is small. Importantly, we show that the unconstrained multiplicative (Risch) model, often used in theoretical studies because of its mathematical tractability, is not a realistic model as impossible probabilities of disease are implied. Specifically, the multiplicative Risch model generates a relationship of = 1, but we have demonstrated that this not possible under many disease scenarios and occurs in the theoretical derivation because probabilities of disease are not constrained and can exceed 1. We have demonstrated that under more realistic models in which probabilities of disease are constrained to 1, the ratio is often much less than 1, a result that is consistent with empirical estimates from a range of diseases. Finally, we conclude that it will only be possible to distinguish between the CRisch, Odds and Probit models in practice if genetic risk profiles are able to reconstruct the majority of the known genetic variance; this is unlikely for the foreseeable future.

(emphasis added)

Please note the above article has a real chance of being false.

Dingo
05-02-2010, 11:48 AM
Rohrer1

Like you said, Downs Syndrome isn't caused by heredity. It's caused because healthy genes are "scrambled" during assembly. Scientists don't know why this happens. Downs is far different from Cystic Fibrosis or Sickle Cell which are caused by heredity. Ogilvie is suggesting that Scoliosis is caused by heredity. Unfortunately for his hypothesis no childhood genetic disease hits 2%+/- of children around the world. Ogilvie is going to be wrong, and when he's proven wrong remember that you heard it here first.

There is an outside chance that some rare types of Scoliosis are caused by heredity. However this type won't hit more than one children in several thousand. Realistically it won't hit more than one child in tens or even hundreds of thousands. Only a handful of potentially fatal genetic diseases hit more than one child in ten thousand and to the best of my knowledge they are all regional.


Don't be disappointed to find out it is hereditary, so many good things are, too.
Now you are on the right track. Beneficial traits are spread through heredity, negative traits (at least in children) are caused by environment. That's what Darwin found on the Galapagos islands 150 years ago. If you bet that way you'll be right 99.9% of the time.

Pooka1
05-02-2010, 11:53 AM
... no childhood genetic disease hits 2%+/- of children around the world.

False.

.
.

Dingo
05-02-2010, 12:10 PM
Rohrer01


If you can get your hands on a genetics textbook and really study it through, it will help you a LOT to understand what is going on with your son.

Could you send me a link to the book or article that explains the genetic cause of Adolescent Idiopathic Scoliois? It would help me a ton. I'll forward it to Dr. Ogilvie. It will advance his research by at least 20 years and allow him to avoid a lot of pesky experiments and papers. :)

Look, idiopathic means of unknown cause. Nobody knows what causes Scoliosis and that includes Dr. Ogilvie.

Dr. Alain Moreau has published work that shows that Melatonin Signaling Dysfunction (http://pico.sssup.it/files/allegati/2004_1469.pdf) may be the cause of AIS. For some reason this nervous system disorder causes a buildup of Osteopontin (http://www.wipo.int/pctdb/en/wo.jsp?WO=2008119170&IA=CA2008000595&DISPLAY=DESC) which leads to Scoliosis. As far as I know he doesn't know the cause of this disorder.

If his work is correct the next question is are identical twins 100% concordant for Melatonin Signaling Dysfunction? That will tell us a lot.

Dingo
05-02-2010, 12:34 PM
Rohrer01

You might find this twin study from Denmark interesting.

Spine (Phila Pa 1976). 2007 Apr 15;32(8):927-30.
Adolescent idiopathic scoliosis in twins: a population-based survey.

STUDY DESIGN: A questionnaire-based identification of adolescent idiopathic scoliosis (AIS) patients in a twin cohort. OBJECTIVE: The purpose of this study was to establish a scoliosis twin cohort to provide data on the heritability of AIS. SUMMARY OF BACKGROUND DATA: The etiology of AIS is still unclear, and the true mode of inheritance has yet to be established. Concordance rates in monozygotic twins have been reported to be between 0.73 and 0.92, and in dizygotic twins between 0.36 and 0.63. Studies on concordance in twin pairs provide a basis for analyzing the influence of genetic versus environmental factors. METHODS: All 46,418 twins registered in the Danish Twin Registry born from 1931 to 1982 were sent a questionnaire, which included questions about scoliosis. A total of 34,944 (75.3%) representing 23,204 pairs returned the questionnaire. RESULTS: A subgroup of 220 subjects considered to have AIS was identified, thus giving a prevalence of 1.05%. The concordant twin pairs were all monozygotic. Pairwise, the concordance rate was 0.13 (13%) for monozygotic and zero for dizygotic twin pairs; proband-wise concordance was 0.25 for monozygotic and zero for dizygotic pairs. The concordance of monozygotic and dizygotic pairs was significantly different (P < 0.05). CONCLUSION: We have found evidence for a genetic etiology in AIS, but the risk of developing scoliosis in 1 twin whose other twin has scoliosis is smaller than believed up until now.

Just 13%? That's not even half as high as Multiple Sclerosis which they know is triggered by the environment. Even if these researchers missed 300% of the cases (which I doubt) MZ concordance would still be just 50% or so. That's low. To the best of my knowledge no other large twin study on Scoliosis has ever been performed. If any exists please post it here because I'd love to read it.

Pooka1
05-02-2010, 04:06 PM
Rohrer01

You might find this twin study from Denmark interesting.

Spine (Phila Pa 1976). 2007 Apr 15;32(8):927-30.
Adolescent idiopathic scoliosis in twins: a population-based survey.


Just 13%? That's not even half as high as Multiple Sclerosis which they know is triggered by the environment. Even if these researchers missed 300% of the cases (which I doubt) MZ concordance would still be just 50% or so. That's low. To the best of my knowledge no other large twin study on Scoliosis has ever been performed. If any exists please post it here because I'd love to read it.

This paper is dismissed IN PRINT by researchers in this field for reasons that are obvious to people not even in the field.

This paper needs to be retracted by the journal. It is annoying to other researchers to have to continually mention it just to shoot it down. This paper is aberrant in the field of these types of papers and yet Dingo singles out the one aberrant paper simply because it matches his preconceived notions. This is a textbook folkscience approach to science.

Dingo constantly posts it because he fails to understand why researchers dismiss this study. It's just more folkscience on his part in lieu of real science because he has no relevant training. And it shows.

A more accurate figure for occurrence in monozygotic twins comes from a meta analysis and is ~73%. This same paper shows about a 1/3 chance of non-monozygotic siblings having scoliosis. This is in keeping with a genetic trigger.

Dingo
05-02-2010, 04:48 PM
2008: Understanding Genetic Factors in Idiopathic Scoliosis, a Complex Disease of Childhood (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2674301/)


Is IS Genetic?

The recognition of genetic influences in IS is well-documented [19-25]. Familial forms of IS were described as early as 1922 [26]. Since then, reports of multiple twin sets and twin series have consistently shown higher concordance in monozygotic (MZ) compared to dizygotic (DZ) twins (reviewed in [27]). A meta-analysis of these clinical twin studies revealed 73% MZ compared to 36% DZ concordances [28]. Interestingly, in this series there was a significant correlation with curve severity in monozygous twins (P<.0002), but not dizygous twins. No correlation with curve pattern was found, suggesting the importance of genetic factors in controlling susceptibility and disease course, but not necessarily disease pattern. More recently, Andersen et al. [29] reported their findings using the Danish Twin Registry. They found 25% proband-wise concordance in monozygotic twins (6 of 44 concordant) compared to 0% concordance (0 of 91) in dizygotic twins, with an overall prevalence of approximately 1%. The lower concordances in both groups as compared with prior results may be explained by differences in study design, specifically, ascertainment in clinics versus by registry, and screening by examination versus questionnaire. Nevertheless the overall trend obtained for all studies suggests strong genetic effects in IS. Interestingly, measured concordances in monozygotic twins were below 100%, reflecting the complexity of disease and suggesting the involvement of as yet unknown environmental or stochastic factors in disease susceptibility.

Anybody who reads this stuff can see which way the train is headed. Genetic susceptability plus environmental damage is the template for nearly all chronic disease in children and young adults.

I look forward to the next, large twin study.

Pooka1
05-02-2010, 05:48 PM
Could you send me a link to the book or article that explains the genetic cause of Adolescent Idiopathic Scoliois? It would help me a ton. I'll forward it to Dr. Ogilvie. It will advance his research by at least 20 years and allow him to avoid a lot of pesky experiments and papers. :)

Here we have an untrained lay person thinking he can "help" a researcher advance his research 20 years and allow him to avoid a lot of pesky experiments and papers.

This arguably gives the other pseudoscientists a run for their money for pure unadulterated arrogance combined with pure unadulterated ignorance.

Spectacular.

rohrer01
05-03-2010, 09:40 AM
Rohrer1

Like you said, Downs Syndrome isn't caused by heredity. It's caused because healthy genes are "scrambled" during assembly. Scientists don't know why this happens. Downs is far different from Cystic Fibrosis or Sickle Cell which are caused by heredity. Ogilvie is suggesting that Scoliosis is caused by heredity. Unfortunately for his hypothesis no childhood genetic disease hits 2%+/- of children around the world. Ogilvie is going to be wrong, and when he's proven wrong remember that you heard it here first.

There is an outside chance that some rare types of Scoliosis are caused by heredity. However this type won't hit more than one children in several thousand. Realistically it won't hit more than one child in tens or even hundreds of thousands. Only a handful of potentially fatal genetic diseases hit more than one child in ten thousand and to the best of my knowledge they are all regional.


Now you are on the right track. Beneficial traits are spread through heredity, negative traits (at least in children) are caused by environment. That's what Darwin found on the Galapagos islands 150 years ago. If you bet that way you'll be right 99.9% of the time.

Dingo, WHAT are you "reading" in to what I said to so grossly misquote me. I NEVER said that Down's Syndrom is not hereditary. It is quite obvious that it IS. Here is what I said....again.

"Dingo, I am only partially quoting you to make a point. What you say here may be true for some diseases, but it is a proven FACT that it doesn't hold true with all genetic disorders. Down's Syndrome is a genetic disease causeed by a trisomy (meaning there are three copies of a chromosome). However, genetics is more complicated than that. During cell division, sometimes there is not a complete trisomy and only a partial where a piece of one chromosome attaches itself to another chromosome. If it is the right peice, you can still have a child with Down's Syndrome. There is nothing that can trigger someone with this genetic makeup to suddenly express the symptoms of Down's Syndrome. Either the child has it or he/she doesn't. What the environment can do is if the child is worked with intensely, then the child's full intellectual potential can be brought out. This does not negate the fact that the child has Down's Syndrome with all of it's risks including heart problems. If a person with Down's Syndrom has a child with a non-down's person. The baby has a 50/50 chance of having Down's. Genetic disorders are not always triggered by something in the environment. Some are, but a vast amount are not. I think that you are trying to prove in your mind somehow that scoliosis could have been avoided if...."

Bold added by ME.

And WHO ever said that only good traits are passed on through heredity and bad traits are caused only by environment...but you???? I'm trying to by nice, but where are you getting this stuff? I give you credit for attempting to read scientific papers, but you are clearly not understanding them. You have a preconceived notion in your head that no amount of proof can seem to dispell.

There are also several genetic reasons why we don't get 100% concordance in monozygotic twins. At this point, I am not even going to try to explain these to you. Sorry.

As far as getting a textbook on AIS genetics, I have no idea where to find one. You might try the book store. But IF you find one, chances are it will have been written by Dr. Ogillvie.

I suggested that you go to a University Campus Bookstore and see about getting a genetics textbook for free. Sometimes they give them away when they switch to a newer edition. You just have to catch them just right. As I stated, I have picked up many books, on various subjects, that way. The content usually isn't that much changed and the basic information will certainly be the same.

Sorry if this was harsh. I don't like being misquoted, as others don't like it either.

I will give you one more example of how science works. I worked for three years on a undergrad project. My professor was convinced that another professor was wrong in his findings about certain "gene" interactions. During the course of the research, we actually proved the other professor was right...WHAT??? He was right? Does that mean we stopped there. Yes, as far as trying to prove his theory to be incorrect. We didn't stop running tests in a different direction, though. We found information that the other professor had not discovered about a different ineraction between these two "genes". That's how science works. When something repeatedly comes up to prove something, then you have to just accept the facts and move on and try to understand more about, "What else is there to learn about this?"

I'm sorry but your hypothesis about good being genetic and bad being environmental is just wrong. You have no proof and you never will. There are too many genetic diseases out there. You need to understand what "genetic" means.

I'm not posting on this topic anymore.

Linda, thank you for the good and helpful information that you found for us. :)

Dingo
05-03-2010, 10:10 AM
Rohrer01

I'm afraid we'll have to agree to disagree. If you ever run across a paper that explains how heredity causes AIS or any other widespread, deadly, childhood disease please post it here. I'd love to read it. :)

To start your search you might want to look through Wikipedia for a common, potentially life threatening childhood disease, caused by heredity. Wikpedia: List Of Genetic Disorders. (http://en.wikipedia.org/wiki/List_of_genetic_disorders) Scoliosis hits about 2% of the population, try to find something comparable. Let me save you some time, nothing like that exists.

I should add that scientists routinely find genes that are associated with illness but most of the time they don't understand the mechanism that explains how the two are connected. Keep the following paper in mind the next time scientists discover a gene that "causes" a particular illness.

2008: Schizophrenia Susceptibility Genes Directly Implicated in the Life Cycles of Pathogens: Cytomegalovirus, Influenza, Herpes simplex, Rubella, and Toxoplasma gondii (http://schizophreniabulletin.oxfordjournals.org/cgi/content/abstract/sbn054)

Anyway I'm always interested in study or science links. Please post them as you come across them.

Pooka1
05-03-2010, 10:51 AM
Scientists and folkscientists always APPEAR to end up agreeing to disagree to due to the fact that only the scientists having relevant knowledge.

But the real reason is, just like why Dawkins refuses to debate creationists, it's just a waste of the scientist's time because there is no debate with two rational, knowledgable sides. There is one scientific side and one (or many) folkscience side(s). Apples and oranges.

Pooka1
05-03-2010, 10:56 AM
Rohrer01
Scoliosis hits about 2% of the population, try to find something comparable. Let me save you some time, nothing like that exists.


False.

http://scoliosis.org/forum/showthread.php?t=10470

rohrer01
05-03-2010, 11:44 AM
Rohrer01

To start your search you might want to look through Wikipedia for a common, potentially life threatening childhood disease, caused by heredity. Wikpedia: List Of Genetic Disorders. (http://en.wikipedia.org/wiki/List_of_genetic_disorders) Scoliosis hits about 2% of the population, try to find something comparable. Let me save you some time, nothing like that exists.



I know I said I wouldn't post here again. But this statement draws me out once again. The reason you won't find a high percentage of children with potentially life threatening genetic disorders is simple. They DIE before they reach childbearing age. People with Down's are prevented by society from having children - although some still do, most do not. Scoliosis is not usually life threatening until it progresses to a very extreme degree, which generally is well beyond the childbearing years.

Also, NO ONE is saying that there is no chance that environment doesn't play a part in this at all. Mental illnesses are heritable diseases that can be triggered by emotional trauma. The trauma changes the brain chemistry which causes a cascade of reactions to turn on the "gene" for the illness. Things like that do happen. But we are talking about SCOLIOSIS, not mental illness.

Dingo
05-03-2010, 12:49 PM
rohrer01


Mental illnesses are heritable diseases that can be triggered by emotional trauma. The trauma changes the brain chemistry which causes a cascade of reactions to turn on the "gene" for the illness.

Stress probably impacts all disease, however I think you might be talking about this...

Child Abuse May 'Mark' Genes In Brains Of Suicide Victims (http://www.sciencedaily.com/releases/2008/05/080507084001.htm)


A team of McGill University scientists has discovered important differences between the brains of suicide victims and so-called normal brains. Although the genetic sequence was identical in the suicide and non-suicide brains, there were differences in their epigenetic marking – a chemical coating influenced by environmental factors.


"It’s possible the changes in epigenetic markers were caused by the exposure to childhood abuse"

Trauma, disease or a myriad of other environmental factors can harm our DNA just as it can harm our physical bodies. Nobody is immune from this type of damage or disease which is far different than heredity.

rohrer01
05-03-2010, 01:05 PM
rohrer01



Trauma, disease or a myriad of other environmental factors can harm our DNA just as it can harm our physical bodies. Nobody is immune from this type of damage or disease which is far different than heredity.

If the trauma, disease, or other environmental factors cause damage to the DNA in the gametes(eggs or sperm), the disease then becomes and inherited one. This is so because the defective DNA can then be passed on to offspring. That's what heredity is. Therefore all heredity is not "good" as you have previously stated.

Dingo
05-03-2010, 01:07 PM
rohrer01


As far as getting a textbook on AIS genetics, I have no idea where to find one. You might try the book store. But IF you find one, chances are it will have been written by Dr. Ogillvie.

I think this is where our disconnect resides. Dr. Ogilvie has not found compelling evidence that AIS is triggered by heredity. He's found some interesting correlations that suggest that certain children have an increased susceptability. Someday he may find the genetic blueprint that triggers Scoliosis. But until that time he's got a hypothesis.

I should add that certain genes make us more or less susceptible to the flu virus.

Scientists pinpoint flu gene (http://www.telegraph.co.uk/health/3538487/Scientists-pinpoint-flu-gene.html)

An unlucky combination of "vulnerable" genes could explain why some people recover from the flu overnight and others struggle to shake off the virus for weeks.

Somebody correct me if I'm wrong but that's roughly what Dr. Ogilvie has found for Scoliosis.

Dingo
05-03-2010, 01:16 PM
rohrer01


If the trauma, disease, or other environmental factors cause damage to the DNA in the gametes(eggs or sperm), the disease then becomes and inherited one. This is so because the defective DNA can then be passed on to offspring. That's what heredity is. Therefore all heredity is not "good" as you have previously stated.

Our DNA certainly isn't the Death Star. It can be damaged like anything else. If this damage is passed onto the next generation that would be an example of heredity. The resulting childhood disease would be rare, and stay rare because of natural selection.

There are a few flukey reasons that harmful genes can become common. However even in those cases these genes are ultimately whittled away over time if they don't serve a beneficial purpose. To the best of my knowledge all of these diseases are regional.

For example Cystic Fibrosis hits about 1 in 3,000 caucasians. That breaks the 1 in 10,000 barrier which means it's exceedingly common for a genetic disease. However Asians are hit at a rate of something like 1 in 30,000. That's pretty normal for a genetic disease.

Scoliosis hits roughly 2% of people around the world. When I hear guys like Dr. Ogilvie call it a genetic disease I know he's going to be wrong. Genes probably play a role in susceptability and that's about it.

Pooka1
05-03-2010, 01:51 PM
To the best of my knowledge

Through all your posts, you show that your knowledge is COMPLETELY insufficient to be discussing this stuff.

mamamax
05-04-2010, 05:16 AM
Dingo - when CD used to post here, he once said that you reminded him of Augusto Odone. I agree. I'm sure Augusto (and his wife) endured much skepticism and scoffing. And yet, this lay parent was the first to scientifically resolve the "how to" of normalizing very long chain fatty acid levels. Because of his work, there now exists Lorenzo's Oil, which prevents illness in those whose genes make them vulnerable to developing ALD symptoms. For those who do not know the story: http://www.myelin.org/LorenzosOiMovie/

Just stopping by to offer my encouragement Dingo, and some additional references for your file:

http://www.nature.com/scitable/topicpage/epigenetic-influences-and-disease-895

http://www.ayugen.com/scienetificInformation.htm

http://www.nature.com/scitable/topicpage/imprinting-and-genetic-disease-angelman-prader-willi-923

Pooka1
05-04-2010, 05:55 AM
To the extent Odone worked independently from researchers, he was doing SCIENCE to his great credit. He put in the time to understand a condition that was far far far simpler than scoliosis. He did not make up etiologies for the disease as the etiology was known. He did not do FOLKSCIENCE, FOLKMEDICINE or FOLKBIOLOGY. Researchers already KNEW what the deal was with that disease unlike with scoliosis. The problem was defined when Odone stepped in. With scoliosis, the problem isn't defined as evidenced by the several separate avenues simultaneously being investigated by researchers. The problem is intrinsically harder.

There is little chance a lay person is going to define the scoliosis problem with no relevant training whatsoever just as there was little chance Odone could have done so even with that far far far simpler disease.

A lay person can put in the time and get the right training to come up to speed on this. But scoliosis is known to be is a far far far more difficult problem. Hence the amount of time and the amount of training required is far far far more. And with a track record of misunderstanding practically every paper posted, it isn't looking good.

Finally, for every Odone there are a million lay people who tried and failed to help. It's admirable that they tried but there is a reason training is required to do research and it can be easily seen in that huge failure rate. By your mention of Odone in this context, you have made the mistake of counting the ONE hit and ignoring the MILLION misses. And in this case, Odone's hit occurred in a situation completely dissimilar to that for scoliosis.

Details matter to those who care to get the story straight and not inadvertently mislead.

Dingo
05-04-2010, 10:03 AM
Mamamax

First of all thanks for the links! Those go in my favorites.

I'm not sure if I'm the same caliber of person as Augusto Odone, however I have a pretty good stink bomb detector. I smell some BS. :)

Scoliosis doesn't look like a genetic disease. It's very common and it hits Japanese, Nigerians, Swedes and everyone inbetween. Twin concordance isn't 100% and although a few unlucky families are hit hard 2 out of 3 cases occur sporadically. Time (and a lot of research) will tell but I'm confident that Scoliosis isn't any different than Multiple Sclerosis or Type 1 Diabetes. Genes create susceptability and environmental damage or misdevelopment causes the disease. Furthermore when the disease occurs specific genes allow for worse symptoms.

When the next big twin study comes out and researchers find "much lower concordance than expected" watch these guys backtrack.

rohrer01
05-04-2010, 03:01 PM
Even if "genes" only cause a susceptibility or predisposition to a disease, it is still hereditary and worth investigating which genes are causing the problem. There are cancer "genes" that make people susceptible to breast cancer, BRCA1 for example. Not everyone who carries these genes gets breast cancer, but it is still genetic (with an environmental trigger), and there are still women out there that know that they are carriers and get mastectomies as a prevention. Please, I'm not trying to be condescending in any way by advising you to get a genetics textbook and learn about what genetics and heredity are really all about. You have the intelligence to do that. If you can invest all this time and energy in reading papers that you have a hard time understanding (you have misunderstood simple layman's terms), you can invest time in putting yourself through a genetics course. This would really help you to understand what you are reading. Like I said, a lack of 100% concordance in MZ twins doesn't really mean that much if the incidence of MZ twins both having the disease is statistically significant. To understand why this is, you would need to study Molecular Biology. There are a whole cascade of DNA sequences that are responsible for turning a "gene" on or off. No one is disputing that environment may have a role in this, and it may be a significant role. I've said that about 100 times already. That doesn't mean it's not genetic, or inherited. I really don't know what your argument is. I know you must be feeling picked on, it is just frustrating that you won't take the advice. You make really off the wall statements that are completely false and can be proven such. If you really want to know what Ogillvie is up to, then you need to educate yourself on what he is doing, either formally (as in a college course or two) or informally (self-taught with a legitimate textbook that is credible). THEN you can make an intelligent argument that others can at least follow. More important than that, you will be in a better position to help your son being informed on what is real and what is not.

I feel bad that I am 41 years old and am just now taking the time to learn about my own disease that I have suffered with for decades. I feel like a failure because I didn't take the time to really understand it when my daughter was underage and I could make good medical choices for her. My ignorance led me to make poor medical choices for her and now she is of age and doesn't want to listen to me... Don't let that happen to you. :( This is really about getting the best care for our children, not who wins the argument.

Dingo
05-04-2010, 04:41 PM
rohrer01

You have to understand there is a big difference between a disease spread by heredity and a disease caused by environmental damage in genetically susceptible people.

For starters don't be surprised if we learn that any child can have Scoliosis. Somewhere around 2% of people have it which suggests that just about anyone might be vulnerable. Genes may make the disease more likely and particular genes may allow for much worse symptoms. But of course the same is true for the flu. Anyone can get the flu but specific genes allow for much worse symptoms (http://www.telegraph.co.uk/health/3538487/Scientists-pinpoint-flu-gene.html). Someday we'll vaccinate children against the flu. If we knew what the environmental component was that triggered Scoliosis we might be able to vaccinate against it as well. That would make it like Polio, not Cystic Fibrosis.

As for the BRCA1 and BRCA2 mutations it's my sense that they can directly lead to cancer because of the way they operate. Unlike a lot of genes that scientists associate with illness these two are well studied and the mechanism that leads to cancer is understood. And of course if these genes caused cancer in 5 year olds instead of 45 year olds they would be extremely rare.

BTW I try to keep my posts simple but I do know quite a bit about genetics. To most people "scrambled" makes more sense and has more meaning than the word Trisomy. To say that sometimes a gene causes a disease and sometimes it doesn't has more meaning to most people than "genetic expression".

Pooka1
05-04-2010, 07:21 PM
So now we have someone who misunderstands even layman's plain English when used in a scientific context making an effort to "dumb it down" for the rest of us. Of course it's already at rock bottom so that isn't possible.

Are we on Candid Camera? That is the only hope here.

rohrer01
05-04-2010, 08:20 PM
Influenza is a virus. You can not trace it in a family tree. EVERYONE gets the flu at some point in their life. Just so you know, they ARE vaccinating children for the flu. Just an educated guess, but I would say that they will NEVER be vaccinating people against scoliosis. You can't keep comparing the flu with scoliosis because everyone gets the flu. Only ~2% of the population get scoliosis. And as I said before, other inherited diseases aren't that common because the children born with them die before they can pass it on to the next generation.

The BRCA1 and BRCA2 genes are well studied, yes. Is the mode of action well understood by scientists? NO, otherwise they would not still be studying it. Women who carry the genes would not be getting mastectomies out of fear of contracting cancer because they would already know the risk factors for if or when they would develop cancer.

Scrambled and trisomy are not synonymous, so it doesn't help the average person to understand. Cell division is a complicated process. Meiosis and mitosis work differently. I do not find your "talking things down" so everyone can understand very logical. I haven't had any complaints about people not knowing what I'm talking about. You can be scientifically accurate and still put things in terms that people understand.

I will admit when I don't know something, like who this Odone fellow is, or what his accomplishments were. I'm really not trying to put you down. You just need to educate yourself. You do NOT understand genetics, heredity, and molecular biology as well as you think you do. I think a measure of humility is needed here.

I feel bad that Mamamax feels the need to jump in and defend you. But I'm really not trying to be insulting or mean. I've given you some very good advice on how to gain the knowledge you need to make your argument valid. I think Pooka1 says the things she does out of sheer frustration. I for one, don't believe that everyone needs to go to college to be a productive member of society. I went to college because I was in a situation that I felt compelled to have an education that would allow me to use my brain so that I could get a job, since I could not do manual labor, like waitressing because of my back. The subject matter I studied was pre-med and then some because I wanted to be a Physicians Assistant. Do I claim to know as much as a doctor? NO. But I did learn a lot about the human body, and my particular field of study was in genetics and molecular biology. I chose not to continue on in school because my children needed me at home. That was my choice. I don't even understand everything these researchers are doing, and to be honest as time goes by, I forget things. But basic things tend to stick with you. It's like riding a bike. You never forget.

Because of my experience, the next step for research in scoliosis, in my opinion, when they get the genetic thing figured out, would be to look at the endocrinological aspect of the disease. This is becaues there is a disparagement between males and females when it comes to progression. Environmentally, men stereotypically do more heavy lifting, work outside more, are exposed to more external factors that you would think would contribute to scoliosis (if you believe it is viral, bacterial, chemical toxins, or the such), especially viruses and germs. Think of plumbers, carpenters, and electricians crawling in all those aweful places to fix old houses, or worse yet, city sewage and sanitation. Not that women don't ever have those types of jobs, but those fields are dominated by men. This is partly why I find your germ theory hard to swallow. So please, don't be so quippy with me. I'm not being mean. I don't like to argue and accuse. I like to discuss ideas. But those ideas need to be reasonable and have a solid knowledge base. You can't compare scoliosis to every other disease out there. I admit I have done some comparisons, but only to make a point on how genetics and heredity work, not to say scoliosis is like.... So if your point is to continue to senselessly argue, I don't want to waste my time. If you want to reasonably discuss something, I'm all ears.

Pooka1
05-04-2010, 08:35 PM
Influenza is a virus. You can not trace it in a family tree. EVERYONE gets the flu at some point in their life. Just so you know, they ARE vaccinating children for the flu. Just an educated guess, but I would say that they will NEVER be vaccinating people against scoliosis. You can't keep comparing the flu with scoliosis because everyone gets the flu. Only ~2% of the population get scoliosis. And as I said before, other inherited diseases aren't that common because the children born with them die before they can pass it on to the next generation.

The BRCA1 and BRCA2 genes are well studied, yes. Is the mode of action well understood by scientists? NO, otherwise they would not still be studying it. Women who carry the genes would not be getting mastectomies out of fear of contracting cancer because they would already know the risk factors for if or when they would develop cancer.

Scrambled and trisomy are not synonymous, so it doesn't help the average person to understand. Cell division is a complicated process. Meiosis and mitosis work differently. I do not find your "talking things down" so everyone can understand very logical. I haven't had any complaints about people not knowing what I'm talking about. You can be scientifically accurate and still put things in terms that people understand.

I will admit when I don't know something, like who this Odone fellow is, or what his accomplishments were. I'm really not trying to put you down. You just need to educate yourself. You do NOT understand genetics, heredity, and molecular biology as well as you think you do. I think a measure of humility is needed here.

I feel bad tha Mamamax feels the need to jump in and defend you. But I'm really not trying to be insulting or mean. I've given you some very good advice on how to gain the knowledge you need to make your argument valid. I think Pooka1 says the things she does out of sheer frustration. I for one, don't believe that everyone needs to go to college to be a productive member of society. I went to college because I was in a situation that I felt compelled to have an education that would allow me to use my brain so that I could get a job, since I could not do manual labor, like waitressing because of my back. The subject matter I studied was pre-med and then some because I wanted to be a Physicians Assistant. Do I claim to know as much as a doctor? NO. But I did learn a lot about the human body, and my particular field of study was in genetics and molecular biology. I chose not to continue on in school because my children needed me at home. That was my choice. I don't even understand everything these researchers are doing, and to be honest as time goes by, I forget things. But basic things tend to stick with you. It's like riding a bike. You never forget.

Because of my experience, the next step for research in scoliosis, in my opinion, when they get the genetic thing figured out, would be to look at the endocrinological aspect of the disease. This is becaues there is a disparagement between males and females when it comes to progression. Environmentally, men stereotypically do more heavy lifting, work outside more, are exposed to more external factors that you would think would contribute to scoliosis (if you believe it is viral, bacterial, chemical toxins, or the such), especially viruses and germs. Think of plumbers, carpenters, and electricians crawling in all those aweful places to fix old houses, or worse yet, city sewage and sanitation. Not that women don't ever have those types of jobs, but those fields are dominated by men. This is partly why I find your germ theory hard to swallow. So please, don't be so quippy with me. I'm not being mean. I don't like to argue and accuse. I like to discuss ideas. But those ideas need to be reasonable and have a solid knowledge base. You can't compare scoliosis to every other disease out there. I admit I have done some comparisons, but only to make a point on how genetics and heredity work, not to say scoliosis is like.... So if your point is to continue to senselessly argue, I don't want to waste my time. If you want to reasonably discuss something, I'm all ears.

Post of the month nomination.

I admire your restraint. The rest of us have been us against this stuff for a long time. Edification is futile. We have a person who clearly feels he is an inadequate parent if he isn't pretending to understand the science of scoliosis. I understand that but that shouldn't mean he gets carte blanche to post anything that pops into his head that doesn't even come close to being science or even rational at times.

Odone is a father of a patient with adrenoleukodystrophy (ALD). From the wiki page:


This severe form of adrenoleukodystrophy was first described by Ernst Siemerling and Hans Gerhard Creutzfeldt in 1923.[3] Lorenzo was diagnosed in 1984, using a new blood test that had been recently developed. People with the disease were usually young boys (5–10 years old), who would gradually become mute, deaf, unable to move, and blind, and would typically die within two years from aspiration or other neurologic causes.

Augusto and Michaela refused to accept this grim prognosis, and fought to find a treatment for their son's fatal disease, clashing time after time with doctors, specialists, and support groups, some of whom were skeptical that two average citizens could produce a cure. With the help of Hugo Moser,[4] and through long hours of research and study, the Odones, who had had no previous medical background, came up with a treatment. This treatment involved the consumption of a specially prepared oil, which became known as "Lorenzo's oil".[5] Lorenzo's Oil has been shown to be ineffective in patients with a related condition, adrenomyeloneuropathy[6].

The Odones had an important role both in developing Lorenzo's oil and in setting up the Myelin Project, which promotes and carries out research on ALD and other similar disorders. Michaela also insisted on continuing to treat her incapacitated son as a human being and not a "vegetable", helping him devise a means of communicating with her and others through the blinking of his eyes and the wiggling of his fingers.

These parents put in the hard work to actually understand the issues enough to propose a rational dietary treatment. But ALD and AIS could not be more different in terms of what is known about each. The situation with AIS is nowhere near as well known and we have various groups of researchers investigating completely different hypotheses. So unlike ALD where not only is it known to be genetic but they knew the entire biochemistry of the problem, the only thing known about AIS is that it has a strong genetic component. The Odones had a huge advantage dealing with ALD where so much more was known.

Dingo
05-04-2010, 10:30 PM
Rohrer01


Influenza is a virus. You can not trace it in a family tree. EVERYONE gets the flu at some point in their life.

The flu virus causes the flu, but it's not that simple. It might also cause diseases like Schizophrenia and Autism.

Flu During Pregnancy May Increase Risk Of Schizophrenia In Certain Offspring (http://www.sciencedaily.com/releases/2009/06/090609073032.htm)


When mothers become infected with influenza during their pregnancy, it may increase the risk for schizophrenia in their offspring. Influenza is a very common virus and so there has been substantial concern about this association. A new study in the June 15th issue of Biological Psychiatry suggests that the observed association depends upon a pre-existing vulnerability in the fetus.

Lucky for us a universal flu shot is in clinical trials right now. (http://www.upi.com/Science_News/2008/01/03/Universal-flu-shot-in-clinical-trials/UPI-27521199414698/) Vaccinating against the flu may reduce the incidence of Schizophrenia, Autism and many other diseases.

For arguments sake let's pretend that the environmental component of Scoliosis is the flu virus. Exposure to a particular strain of the flu, in a high enough dose at the wrong time may trigger the nervous system damage that leads to Scoliosis, especially in genetically susceptible children. In that case vaccination against the flu would eliminate Scoliosis just like the Polio vaccine eliminated Polio.

Most people don't realize that very few children who were exposed to the Polio virus suffered any permanent damage. Wiki: Polio (http://en.wikipedia.org/wiki/Poliomyelitis) Most kids had no symptoms and a few simply came down with what felt like a cold. However a small minority of children weren't so lucky. Something like 1 in 1,000 children suffered paralysis. No doubt many of the most severely affected children had a genetic susceptability to the Polio virus. I've seen old news clippings with headlines that showed that in some families multiple children were killed by Polio.

rohrer01
05-05-2010, 12:26 AM
Rohrer01




For arguments sake let's pretend that the environmental component of Scoliosis is the flu virus. Exposure to a particular strain of the flu, in a high enough dose at the wrong time may trigger the nervous system damage that leads to Scoliosis, especially in genetically susceptible children. In that case vaccination against the flu would eliminate Scoliosis just like the Polio vaccine eliminated Polio.

Most people don't realize that very few children who were exposed to the Polio virus suffered any permanent damage. Wiki: Polio (http://en.wikipedia.org/wiki/Poliomyelitis) Most kids had no symptoms and a few simply came down with what felt like a cold. However a small minority of children weren't so lucky. Something like 1 in 1,000 children suffered paralysis. No doubt many of the most severely affected children had a genetic susceptability to the Polio virus. I've seen old news clippings with headlines that showed that in some families multiple children were killed by Polio.

I would be more inclined to believe that a scoliosis trigger may be a lack of enough folic acid during pregnancy. At least in my case, I also have spina bifida occulta. Spina bifida is connected to folic acid deficiency, and possibly heredity as well, as my son also has it. Both my mother and myself were very diligent about taking our folic acid during pregnancy. However, when I was undergoing fertility treatments and they found out about all of my back issues, they put me on mega doses of folic acid, 4mg/day. The usual amount in a non-prescription prenatal vitamin is 0.8mg/day and a prescription prenatal vitamin is 1.0mg/day. Maybe that is the environmental trigger? Many things can happen in-utero to affect the child. High fevers, german measles can really do a number on a baby, and several other things, including stress. I'm having a hard time accepting your germ theory because there are families, like mine, that are extrememly hard hit by scoliosis. These are genetic patterns, again not saying environment has nothing to do with it. But my biggest guess is that environment in which something is triggered to turn on the scoliosis genes is probably during gestation. The other factors are hormonal (endocrinological), due to the fact that girls go through a more harsh and sudden production of hormones that are constantly fluctuating, and not just estrogen. They continue with their menstrual cycle throughout their child-bearing years and guess what? Women progress more than men do. Just plain old deduction. What makes girls different from boys. Thankfully you have a SON with scoliosis and not a daughter. Not saying that he will never progress, no one can know that. It's too early in the game for that. But at least he has gender on his side. You are going to have to come up with some pretty severe "proofs" to convince anyone that scoliosis is caused by a flulike virus simply because it has such close ties to families, which indicated a genetic disorder. BUT if you do your research from legitimate sources - I suggest putting you on the trail of gestational diseases (whether viral or not) and hormonal imbalances. It would be nice to vaccinate our children for scoliosis, but I'm afraid that it is predetermined before the child is born. I hope you are focusing most of your research on treatment options for your child and finding out what works and what doesn't and WHY. I think that would be time best spent. They grow up so fast and it makes you wonder where the time went. Worry about him right now, then when he is grown focus on the how's of the disease. I wish I had done more for my daughter, as I previously stated. Don't get so caught up in these discussions and debates that you forget to get him the best treatment for him. Just a word of advice from one parent to another.;)

As far as Polio's effect on people. I've only known two people with Polio and BOTH had paralysis from it. My grandmother was one of them and she suffered terribly from Post-Polio syndrome. She had extreme pain as an adult (in her 40's and 50's) and died at the age of 59. No one knows what she died from. I don't know that much about Post-Polio syndrome.

Also, remember that while wikipedia is a good source for information. It is not "official" and can be changed by anyone. You seem to get a lot of information from there. A good place to go for accurate data is PubMed through nih (National Institute of Health) and the CDC.

Pooka1
05-05-2010, 05:50 AM
Maybe that is the environmental trigger? Many things can happen in-utero to affect the child.

I think it was Ogilvie who when asked about why monozygotic twins were not 100% concordant he replied something along the lines that twins studies are not necessarily a good model for studying scoliosis because it is a midline developmental disorder and monozygotic twins at least are known not to always split evenly or along the same axis or something.

So he was saying that there are physiological reasons NOT to expect monozygotic twins to be concordant. No need to discard the genetic basis when noting they are not 100% discordant. Researchers working in this field know these things... lay, untrained parents, not so much.

Just like I know things in my field that someone even in an allied field may not. And it matters critically in some cases... it is hard to have to suggest rejecting a paper for a journal when the person has missed a critical detail that undermines the results. In this case, if enough is known about splitting of the fertilized egg then they had better somehow control for that in the studies or these twins studies on scoliosis possibly should not continue to be published.

And for every issue like this that have been identified there are a million left to be identified. So even something like using mono- and dizygotic twins to study scoliosis which might seem okay at first may not be.

It is very easy to see why most published research results are false despite the best efforts of the researchers.

And it is very easy to see why a lay, untrained parent may think the problem is defined and that the literature is perfect when in fact neither might be the case.

Pooka1
05-05-2010, 09:15 AM
From that wiki page I posted...


With the help of Hugo Moser,[4] and through long hours of research and study, the Odones, who had had no previous medical background, came up with a treatment.

Note start of the sentence, "With the help of Hugo Moser." So they were working closely with a researcher. Imagine the sheer number of edifications that must have occurred given the lack of medical training of the Odones. And then imagnie how they took that edification on board and used it to develop the suggested dietary treatment.

A random lay parent NOT working closely with a researcher NOR accepting edification about even basic stuff NOR getting appropriate training is not in the same category as the Odones.

Dingo
05-05-2010, 10:00 AM
Rohrer01


I would be more inclined to believe that a scoliosis trigger may be a lack of enough folic acid during pregnancy. At least in my case, I also have spina bifida occulta. Spina bifida is connected to folic acid deficiency, and possibly heredity as well, as my son also has it. Both my mother and myself were very diligent about taking our folic acid during pregnancy. However, when I was undergoing fertility treatments and they found out about all of my back issues, they put me on mega doses of folic acid, 4mg/day. The usual amount in a non-prescription prenatal vitamin is 0.8mg/day and a prescription prenatal vitamin is 1.0mg/day. Maybe that is the environmental trigger?

The trigger could be low folic acid, hormone irregularities or pretty much anything. I think as they learn more about AIS they'll break it up into multiple diseases with different triggers.

On my son's first visit his doctor told me that Scoliosis was rooted in a central nervous system disorder. According to Dr. Alain Moreau that hypothesis is correct. (Melatonin Signaling Dysfunction in Adolescent Idiopathic Scoliosis (http://pico.sssup.it/files/allegati/2004_1469.pdf))
If you believe this and other studies the nervous system causes changes to the spine that ultimately lead to Scoliosis. None of this is fully understood.

If he's right that leaves us with two main possibilities:
A) This nervous system disorder spread to every corner of the globe via heredity
B) Our kids have nervous system damage

Personally I'm betting on B. I wouldn't be surprised to learn that our kids have a genetic susceptability. Many kids probably do. But Scoliosis hits 2% of the population and 2 out of 3 cases occur randomly so the genetic vulnerability may be reasonably common.

By comparison Type 1 Diabetes strikes at random but it also hits some families very hard. Somebody correct me if I'm wrong but I believe if a parent has Type 1 his/her children have a roughly 1 in 3 chance to get Type 1. Then this comes out....

Study Of Human Pancreases Links Virus To Cause Of Type 1 Diabetes (http://www.sciencedaily.com/releases/2009/03/090305141639.htm)


A team of researchers from the Peninsula Medical School in the South West of England, the University of Brighton and the Department of Pathology at Glasgow Royal Infirmary, has found that a common family of viruses (enteroviruses) may play an important role in triggering the development of diabetes, particularly in children. These viruses usually cause symptoms similar to the common cold, or vomiting and diarrhoea. However, the team has now provided clear evidence that they are also found frequently in the pancreas of people who develop diabetes.

Type 1 Diabetes sounds just like Polio and I'm guessing Scoliosis. Most kids who are exposed to "disease X" will be asymptomatic or get a cold. A few unlucky kids will suffer nervous system damage that after many months or years leads to Scoliosis.

Dingo
05-05-2010, 06:35 PM
Rohrer01


I hope you are focusing most of your research on treatment options for your child and finding out what works and what doesn't and WHY. I think that would be time best spent.

Like most children with Scoliosis my son's doctor told us to watch and wait. No way.

After easily a few thousand hours of reading I came across enough information that convinced me that muscle mass was probably protective against Scoliosis. We are doing general strength training which I believe helps.

When my son turns 8 he'll be old enough to do Torso Rotation Strength Training which was found to be effective in 3 small studies. A 4th study conducted in Switzerland was just completed and is set to be published soon. I believe that other studies may be underway right now.

Torso Rotation Strength Training for Scoliosis (http://www.scoliosis.org/forum/showthread.php?t=8976)

This thread has plenty of study links including a video (http://www.wcsh6.com/news/health/story.aspx?storyid=92954&catid=8). TRS was discovered by a spine surgeon in California. The first study was released just a few years ago. Nobody can make any real money on TRS which might explain why most people have never heard of it. This therapy takes just a few minutes, twice per week and according to Roger Schwab and the 3 studies it helps almost everyone.

mamamax
05-05-2010, 06:46 PM
I feel bad that Mamamax feels the need to jump in and defend you. But I'm really not trying to be insulting or mean.

Don't feel bad rohrer01 - I do not see your posts as insulting or mean by comparison to some others ;-) And, I didn't feel the need to defend Dingo - he truly can hold his own. I was offering Dingo some web links - we sometimes swap information we come across, and I was remembering how another poster (Concerned Dad) once expressed his admiration for Dingo's research. Pity CD is not here now ... he would have enjoyed Dingo's most recent postings as well, and also offered thought provoking responses.

rohrer01
05-05-2010, 08:05 PM
Dingo,
Here's a little bit of the scoop on MZ twins. At conception any fertilized egg (zygote) is nothing but a stem cell as far as science is concerned (thus the huge uproar about stem cell research). At some point during that rapid period of cell division, the cellular "glue" comes loose and now you have two embryos floating around. Sometimes the glue comes undone right away, sometimes it comes undone later - and can even be incomplete resulting in conjoined twins. Have you ever noticed that identical twins are not "identical" in the sense of every feature, such as height? Some are mirror images of each other. If you know them well, you have no trouble telling them apart. During embryonic development, there are things going on that lead to cell differentiation; some cells become "liver cells", some become "bone", "nervous tissue", "heart", "lung", you get the picture. Once the embryos separate, they are on their own, so to speak. Even though the DNA sequence is the same, every signaling pathway is not. I explained X-inactivation in females. We only need one X chromosome so, in females one inactivates. It is a totally random process; 50/50. Boys don't have that, so would carry all the same traits that are on their X chromosome. Back to signaling pathways, that is a very important step in embryonic development. This is what they are studying so much. They can take a stem cell line (in essence all these cells are monozygotic and if allowed would all be like MZ twin, triplets, ets....) but they are able to tell some of them to do this and some to do that. Regardless of our DNA we all develop indivdually. This is why you will rarely, if EVER find 100% concordance when it comes to disease, or any other trait for that matter. If you look at a distance or even up close, they may be alike enough to fool our eyes. But look closer and closer and you can find a difference in almost any feature even if it is very minute. To sum it up, we are all indivuduals, even conjoined twins have different features.

Now back to your virus hypothesis. In many of these studies you quote, like the type 1 diabetes study. They actually found the virus lurking in the pancreas of these deceased children. When you can find a study where a particular virus is found in a statistically significant portion of the bone or spinal fluid, or muscle tissue (basically a relevant place) in people with scoliosis, that is NOT found in the general population. Then I will believe you. But for now, that hasn't happened. I'm sure you are not the first person to think of a viral cause of this. I'm sure it hasn't been pursued because nothing has been found. Maybe you can get in touch with a credible research scientist from a nearby university and propose this to them. This would be a legitimate way to at least start or see if anyone is willing to look into your hypothesis.

I would like to mention that this has gone so far off topic from what Linda Racine posted that I think it's fair to say she has been hijacked. We are being rude by doing that to her. I think that these topics should have their own thread.

Kindly,
Rohrer01

Dingo
05-05-2010, 08:23 PM
Rohrer01


When you can find a study where a particular virus is found in a statistically significant portion of the bone or spinal fluid, or muscle tissue (basically a relevant place) in people with scoliosis, that is NOT found in the general population. Then I will believe you.

When somebody discovers even one common, worldwide, deadly genetic disease in children that behaves like Scoliosis I'll believe Dr. Ogilvie.

Pooka1
05-05-2010, 08:29 PM
When somebody discovers a single, common, widespread, deadly genetic disease in children I'll believe Dr. Ogilvie.

Irrelevant.

Scoliosis is not deadly in almost every case. Only about 1 in 1,000 ever reach surgical range and many/most of those still have kids before it affects them enough to affect them.

So asking for a "deadly" genetic disease is of course irrelevant.

Ask about a genetic disease of childhood wherein many people never know they have it and virtually everyone who has it has kids.

That is the relevant question.

Here's another relevant question... given the observed characteristics of scoliosis, why isn't the prevalence HIGHER than 2-4 % worldwide? Now that's a great research question in my opinion.

rohrer01
05-05-2010, 11:06 PM
Irrelevant.


Here's another relevant question... given the observed characteristics of scoliosis, why isn't the prevalence HIGHER than 2-4 % worldwide? Now that's a great research question in my opinion.

It might be. How many cases go unreported? Do they include all the little old people that are all twisted and bent up in their percentages? I doubt it. How many people have never heard of scoliosis? How many people don't get diagnosed because they have no pain and never progress? We'll never know unless someone takes very LARGE ramdom samples of various populations worldwide and X-rays everyone. Then they need to repeat it several times over. Has that been done to anyone's knowledge? If not, how do they know that the incidence of scoliosis is only 2-4%?

Now that is relevant. Good thought Pooka1

rohrer01
05-05-2010, 11:22 PM
Rohrer01



Like most children with Scoliosis my son's doctor told us to watch and wait. No way.

After easily a few thousand hours of reading I came across enough information that convinced me that muscle mass was probably protective against Scoliosis. We are doing general strength training which I believe helps.

When my son turns 8 he'll be old enough to do Torso Rotation Strength Training which was found to be effective in 3 small studies. A 4th study conducted in Switzerland was just completed and is set to be published soon. I believe that other studies may be underway right now.

Torso Rotation Strength Training for Scoliosis (http://www.scoliosis.org/forum/showthread.php?t=8976)

This thread has plenty of study links including a video (http://www.wcsh6.com/news/health/story.aspx?storyid=92954&catid=8). TRS was discovered by a spine surgeon in California. The first study was released just a few years ago. Nobody can make any real money on TRS which might explain why most people have never heard of it. This therapy takes just a few minutes, twice per week and according to Roger Schwab and the 3 studies it helps almost everyone.

Now those are studies that I would be interested in.

My mother was told to watch and wait with me also. She didn't want to do that either. She did the best she could at the time, 25 years ago, and took me to a D.O. who did adjustments and electrostimulation of my back muscles. I got a 3* improvement that held for about 10 years before going south again. At least she TRIED to do something. Part of the reason I believe that it held was because I remained an active, physically fit person. I have pretty much always exercised in one form or another. I get bored, so one year might be hiking. The next ice skating. Then swimming, bike riding. Now I'm reduced to walking. But I'm still DOING. I know the SRS says that PT doesn't help except for comfort, but I'd rather be comfortable. Certain PT exercises I find boring and always discontinue. That may be why PT doesn't work. :eek: With that said, keeping your son motivated, especially through the teen years may be a challenge. I sincerely hope these thing work. He's awfully young do be diagnosed with scoliosis. It's usually diagnosed around puberty. Did you all see it? Does he have idiopathic scoliosis or congenital scoliosis?

LindaRacine
05-05-2010, 11:31 PM
Now those are studies that I would be interested in.

My mother was told to watch and wait with me also. She didn't want to do that either. She did the best she could at the time, 25 years ago, and took me to a D.O. who did adjustments and electrostimulation of my back muscles. I got a 3* improvement that held for about 10 years before going south again. At least she TRIED to do something. Part of the reason I believe that it held was because I remained an active, physically fit person. I have pretty much always exercised in one form or another. I get bored, so one year might be hiking. The next ice skating. Then swimming, bike riding. Now I'm reduced to walking. But I'm still DOING. I know the SRS says that PT doesn't help except for comfort, but I'd rather be comfortable. Certain PT exercises I find boring and always discontinue. That may be why PT doesn't work. :eek: With that said, keeping your son motivated, especially through the teen years may be a challenge. I sincerely hope these thing work. He's awfully young do be diagnosed with scoliosis. It's usually diagnosed around puberty. Did you all see it? Does he have idiopathic scoliosis or congenital scoliosis?
I believe Dingo's son started out with, and has maintained, an 8 degree curve. <no comment necessary>

Pooka1
05-06-2010, 05:28 AM
I believe Dingo's son started out with, and has maintained, an 8 degree curve. <no comment necessary>

If I recall correctly, he has been at 10* - 11* for at least a year. It certainly looks like he might not progress and may even resolve spontaneously. Everyone here certainly hopes so.

We know from the Greek study that a fair percentage of kids don't progress and even resolve completely absent any treatment whatsoever. So it will be impossible in practice to claim the PT did anything whatsoever.

The torso rotation exercises are discussed on other threads. The lead author of one of those studies was on the forum discussing it also. He did his doctorate in exercise physiology or muscle physiology or something, can't recall which and did his dissertation on torso rotation PT for scoliosis. You might want to read what he said about this subject. He moved on to a post doc doing something else.

Pooka1
05-06-2010, 05:48 AM
In the article Linda posted

http://www.aafp.org/afp/2001/0701/p111.html

the authors state,


[...]the prevalence for curves greater than 40 degrees is approximately 0.1 percent.

So we have one person in 1,000 ever achieving a curve > than 40*. And many of those people have kids before it affects them or have surgery to hold the progression as we can see from teh testimonials here (and from common sense).

Again, it is amazing that the prevalence rate is only 2-4* and not much higher.

ETA: And when you factor in rohrer01's point about all the undiagnosed cases, the correct ratio for number of people ever reaching >40* might be much lower than even 1 in a 1,000. Maybe it's 1 in 10,000 or more. Thus it is easy to see why this genetic disease could reach a high prevalence in the worldwide population which it does.



Also from that article,


Pathophysiology

Many studies have attempted to uncover the pathophysiologic process underlying idiopathic scoliosis. Multiple abnormalities have been found, yet none has been conclusively linked to all cases.

Studies of twins12 have given the firmest indication that the most significant factor is genetic. Indeed, a recent meta-analysis13 showed that not only is the risk for scoliosis greater in monozygotic twins than in dizygotic twins, the rate of curve progression is nearly identical among twins subjected to a variety of environmental influences. Current theorists believe that scoliosis is a multigene dominant condition with variable phenotypic expression.5 Therefore, even though scoliosis is typically present in most members of the same family, its severity can vary widely from parent to child and sibling to sibling. When both parents have scoliosis, the risk that their children will require treatment is 50 times that in the general population.7

rohrer01
05-06-2010, 09:10 AM
If I recall correctly, he has been at 10* - 11* for at least a year. It certainly looks like he might not progress and may even resolve spontaneously. Everyone here certainly hopes so.

We know from the Greek study that a fair percentage of kids don't progress and even resolve completely absent any treatment whatsoever. So it will be impossible in practice to claim the PT did anything whatsoever.



That is very interesting, since my son at about age 8, had a small curvature that, at the time looked greater than my daughters. When I had them rechecked, his had dissappeared and hers had progressed. I think hers is continuing to progress, as I can "see" it, however I haven't seen her X-rays from the chiropractor as she has not made me privy to that information.

Dingo
05-06-2010, 09:43 AM
Rohrer01


I sincerely hope these thing work. He's awfully young do be diagnosed with scoliosis. It's usually diagnosed around puberty. Did you all see it? Does he have idiopathic scoliosis or congenital scoliosis?

My son has Juvenile Scoliosis.

Age 4: Doctor noticed a small rib hump, no x-ray taken, told us to wait and see.
Age 5: Rib hump grew. Doctor sent us to a Scoliosis specialist who diagnosed him with a 12 degree curve
Age 5.5: Recheck measured 11 degrees
Age 6: Recheck measured 10 degrees

At Scott's age 6 recheck I was surprised that the doctor didn't say 5 degrees. Both his rib hump and curve had diminished considerably.

He has his 7 year checkup in late September. Scott went through a growth spurt this year and for a while it looked like his curve (especially his rotation) had grown worse. But then after a while it started to look better again. I just pray that his curve stays under 20 degrees until he's about 8 and can start TRS therapy. I'm going to buy a used machine so we can do it at home. A mom on this board Turtlelover purchased a used Cybex machine for a few hundred bucks so her daughter could exercise at home. 6 months later her curve dropped 5 or 6 degrees. In previous rechecks it had been progressing.

BTW you are probably correct in your assumption that exercise held your curve for a while. A lot of evidence (scientific and anecdotal) points to the fact that muscle mass protects the spine from Scoliosis.

Relation between adolescent idiopathic scoliosis and morphologic somatotypes (http://www.ncbi.nlm.nih.gov/pubmed/9383860)


CONCLUSION: Adolescent girls with progressive adolescent idiopathic scoliosis have a morphologic somatotype that is different from the normal adolescent population. Subjects with progressive adolescent idiopathic scoliosis are significantly less mesomorphic than control girls. This observation may be of value as a predictive factor for early identification of subjects with adolescent idiopathic scoliosis at greater risk of progression.

I have nothing against Scroth or other therapies designed to help children with Scoliosis. But from what I read it's simple muscle mass and physical size that protects the spine. That's probably one reason that according to this study from 2006 (http://www.ncbi.nlm.nih.gov/pubmed/16924210) 50% of Juvenile cases end in spinal fusion. Their small bodies simply don't posess enough mass to protect their spines from progression.

rohrer01
05-06-2010, 10:09 AM
Rohrer01



My son has Juvenile Scoliosis.

Age 4: Doctor noticed a small rib hump, no x-ray taken, told us to wait and see.
Age 5: Rib hump grew. Doctor sent us to a Scoliosis specialist who diagnosed him with a 12 degree curve
Age 5.5: Recheck measured 11 degrees
Age 6: Recheck measured 10 degrees

At Scott's age 6 recheck I was surprised that the doctor didn't say 5 degrees. Both his rib hump and curve had diminished considerably.

He has his 7 year checkup in late September. Scott went through a growth spurt this year and for a while it looked like his curve (especially his rotation) had grown worse. But then after a while it started to look better again. I just pray that his curve stays under 20 degrees until he's about 8 and can start TRS therapy. I'm going to buy a used machine so we can do it at home. A mom on this board Turtlelover purchased a used Cybex machine for a few hundred bucks so her daughter could exercise at home. 6 months later her curve dropped 5 or 6 degrees. In previous rechecks it had been progressing.

BTW you are probably correct in your assumption that exercise held your curve for a while. A lot of evidence (scientific and anecdotal) points to the fact that muscle mass protects the spine from Scoliosis.

Relation between adolescent idiopathic scoliosis and morphologic somatotypes (http://www.ncbi.nlm.nih.gov/pubmed/9383860)



I have nothing against Scroth or other therapies designed to help children with Scoliosis. But from what I read it's simple muscle mass and physical size that protects the spine. That's probably one reason that according to this study from 2006 (http://www.ncbi.nlm.nih.gov/pubmed/16924210) 50% of Juvenile cases end in spinal fusion. Their small bodies simply don't posess enough mass to protect their spines from progression.

Maybe your son will be fortunate like mine and it will disappear alltogether. My son is now 17 and does bodybuilding and a lot of strenght training just because he likes it. His spine continues to appear very straight. I check my children often, even though they are older. My oldest son never had a problem. I think there is definitely a link between boys and girls and the severity. I'm sure this is one thing we can agree on. :)

skevimc
05-06-2010, 12:41 PM
The torso rotation exercises are discussed on other threads. The lead author of one of those studies was on the forum discussing it also. He did his doctorate in exercise physiology or muscle physiology or something, can't recall which and did his dissertation on torso rotation PT for scoliosis. You might want to read what he said about this subject. He moved on to a post doc doing something else.

And I still nose around here from time to time. :)

I haven't been able to follow either argument very well. Anecdotally, several patients in my study had a first or second degree relative with scoliosis. Usually their mom or aunt. Seems like having scoliosis doesn't guarantee that your child will get it, but if you take a child that has it and look 'upstream' you can probably find something. The problem with genetics and scoliosis seems to be that passing 'something' on is so nebulous. That something could be anything and could effect any organ system. It gets too over my head too quickly for me to be able to follow it with any vigor.

Pooka1
05-06-2010, 12:51 PM
And I still nose around here from time to time. :)

I haven't been able to follow either argument very well. Anecdotally, several patients in my study had a first or second degree relative with scoliosis. Usually their mom or aunt. Seems like having scoliosis doesn't guarantee that your child will get it, but if you take a child that has it and look 'upstream' you can probably find something. The problem with genetics and scoliosis seems to be that passing 'something' on is so nebulous. That something could be anything and could effect any organ system. It gets too over my head too quickly for me to be able to follow it with any vigor.

I suggest only geneticists specializing in this field perhaps can follow and rationally discuss it.

This is complex. Anyone who can't argue both sides of that one article I posted shouldn't be discussing it in my opinion and that includes me.

The most defensible idea at this point seems to be the sentence I highlighted from that article...


Finally, we conclude that it will only be possible to distinguish between the CRisch, Odds and Probit models in practice if genetic risk profiles are able to reconstruct the majority of the known genetic variance; this is unlikely for the foreseeable future.

There is almost always more that is unknown when it comes to this kind of stuff. And it just keeps getting larger.

Dingo
05-06-2010, 10:24 PM
Skevimc


I haven't been able to follow either argument very well.

My main point is that Scoliosis is far too common to be a genetic disease. If it hit old people I might have a different opinion but childhood genetic diseases are always rare or at least regional. There probably is a genetic susceptability much like what scientists have found in MS and Type 1 Diabetes. However some sort of environmental damage triggers the disease. Since the problem resides in the nervous system I assume the environmental trigger is a pathogen but obviously it could be anything.

My worldview predicts that if scientists do a large twin study it will produce relatively low twin concordance. Time will tell. :)

After my son was diagnosed with Scoliosis I began to read a lot about all sorts of diseases. It's crazy how many diseases that we used to think were caused by heredity or lifestyle are now being pinned on pathogens.

High Blood Pressure Could Be Caused By A Common Virus, Study Suggests (http://www.sciencedaily.com/releases/2009/05/090514221915.htm)

Pooka1
05-07-2010, 05:40 AM
"Science is what we do to keep us from lying to ourselves." -- Richard Feynman, Nobel Physicist and genius

rohrer01
05-08-2010, 01:58 PM
Am J Med Genet A. 2010 May;152A(5):1178-88.
Polygenic inheritance of adolescent idiopathic scoliosis: a study of extended families in Utah.

Ward K, Ogilvie J, Argyle V, Nelson L, Meade M, Braun J, Chettier R.

Axial Biotech, Inc., Salt Lake City, Utah 84109, USA. ken.ward@axialbiotech.com
Abstract

A heritability study of 69 extended Utah families with a history of adolescent idiopathic scoliosis (AIS) indicates that AIS is a polygenic, multifactorial condition. Each family reported a history of AIS within four generations; a total of 247 individuals were confirmed via X-rays and medical records to have AIS. Coefficient of kinship was more than 25 standard deviations higher for these 69 families than for the general population. Excluding all probands and assuming autosomal dominant inheritance, 1,260 individuals over the age of 16 were determined to be at risk for AIS because they have a parent with AIS. Assuming 50% of these individuals carry the allele, estimated penetrance in at-risk males is approximately 9%, and estimated penetrance in at-risk females is approximately 29%. Recurrence risk in relatives decreases as the degree of relationship to the affected individual becomes more distant; however, the lowest recurrence risk calculated, for third-degree relatives, is still an average of 9%, well above the general population's risk. Onset of AIS appears to be inherited separate from curve pattern and severity. In a study of phenotypes in 36 of the families, the affected individuals were consistent in either curve severity or curve pattern, but not both. It is unclear whether severity or pattern is more heritable, but it is possible that the location of the curve on the spine is the most heritable trait of the phenotype. The study demonstrates the genetic complexity of AIS, including the low penetrance of its cumulative alleles and variable expression. Copyright 2010 Wiley-Liss, Inc.

I reread this. I don't know why, but I did. I come now to the conclusion that "Mormon" is becoming an ethnicity. Read the Title of the study. So, for those of you with ancestors that were Mormon (or if you are Mormon by family, not a convert), I would be very diligent about watching your children for AIS.

This has to be a different study by Axial Biotech than the one I took part in. I don't recall too many family related questions, and I certainly wasn't able to tell them of all of my family members that have it. But neither one of my parents have it, so that really doesn't fit with the "dominant" pattern that they describe here. Thus the polygenic nature of this. Not all AIS is dominant, unless my father has it and none of us knows about it (which is a likely factor since, to my knowledge, he has never been checked or X-rayed). It was my father's mother who had it AND a maternal aunt has kyphyscoliosis, which is different than the rest of us. I have a niece who has AIS and a daughter who is affected, but those conducting the study that I participated in do not know this about my family. I also have a STRONG heritage in Mormonism (is that how you say it?) even though I myself am not, although I was raised as a Mormon. My heredity in that church goes back to the founding fathers and I have AIS. I think they should pursue this further. I'm not being prejudiced here, it happened to the Jewish population with Tay-Sachs.

How do you define an ethnicity, anyway? Is it when traits or diseases develop that are not common to the rest of the human population? I guess I would need to do some research on that one, unless there is someone on here who knows?

Here's what Wikipedia has to say about Tay-Sachs:

"Research in the late 20th century demonstrated that Tay-Sachs disease is caused by a genetic mutation on the HEXA gene on chromosome 15. A large number of HEXA mutations have been discovered, and new ones are still being reported. These mutations reach significant frequencies in several populations. French Canadians of southeastern Quebec have a carrier frequency similar to Ashkenazi Jews, but they carry a different mutation. Many Cajuns of southern Louisiana carry the same mutation that is most common in Ashkenazi Jews. Most HEXA mutations are rare, and do not occur in genetically isolated populations. The disease can potentially occur from the inheritance of two unrelated mutations in the HEXA gene."

So apparently it is NOT isolated to the Jewish population, as we know that AIS is NOT isolated to the Mormon population. However, being Jewish does put a family at risk for having an TSD affected child. So the question goes, does being Mormon put a family at risk for having an AIS affected child? It would be interesting to know if the incidence of AIS is higher in the Mormon population.

I might be talking myself in circles here, but why would they take a sample from Utah, knowing that I believe around 40% of that state is Mormon (I got this figure from my brother-in-law who is Mormon and lives in Utah)?

rohrer01
05-08-2010, 02:11 PM
I wish I could get in on this study, if only as a grunt laborer...:( Moving to Utah wouldn't be too bad. It's pretty there. :)

LindaRacine
05-08-2010, 06:43 PM
I reread this. I don't know why, but I did. I come now to the conclusion that "Mormon" is becoming an ethnicity. Read the Title of the study. So, for those of you with ancestors that were Mormon (or if you are Mormon by family, not a convert), I would be very diligent about watching your children for AIS.

They only studied families with known AIS, so there's no way to know the prevalence of scoliosis in Mormons, at least not from this abstract.

rohrer01
05-09-2010, 05:16 PM
They only studied families with known AIS, so there's no way to know the prevalence of scoliosis in Mormons, at least not from this abstract.

They should ask the families.;)