Scoliscore - Quo Vadimus?

[Dingo]

patent

twinsmom

METHOD OF DETERMINING RISK OF SCOLIOSIS

You might find this patent interesting. It pertains to a blood test to detect Scoliosis as well as a medicine to treat it.

[Pooka1]

While Pooka1 might be a little bit, okay a lot, edgy (no offense to you Pooka1) when she gets frustrated, she has some very valid things to contribute. She does her research, too, especially when it comes to MZ twinning.

Dingo is very clearly NOT interested in anything but his own folk science claims.

[rohrer01]

twinsmom

METHOD OF DETERMINING RISK OF SCOLIOSIS

You might find this patent interesting. It pertains to a blood test to detect Scoliosis as well as a medicine to treat it.

I do find it interesting. This was an exerpt taken from this article.

[0071] As used herein the terms "likely candidate for developing adolescent idiopathic scoliosis" include children of which a least one parent has adolescent idiopathic scoliosis. Among other factors, age (adolescence), gender and heredity (i.e. born from a mother or father having a scoliosis) are factors that are known to contribute to the risk of developing a scoliosis and are used to a certain degree to assess the risk of developing AIS. In certain subjects, scoliosis develops rapidly over a short period of time to the point of requiring a corrective surgery. Current courses of action available

[rohrer01]

This was also from the same article:

[0041] Figure 1 presents OPN detection in pinealectomized chicken and corresponding scoliosis. Upper and lower panels illustrates the up regulation of OPN expression detected in paraspinal muscles of pinealectomized chicken developing a scoliosis (S) vs. those remaining unaffected (NS) at the mRNA and protein levels respectively.;

It's my understanding that poultry do not make good study models for humans. I could be wrong. I did appreciate the fact that they did take surgical samples from actual scoliosis patients. This paper seemed to be a conglomeration of information from other papers. It was very long and I admittedly didn't take the time to read it all.

I do give you credit for finding resources for ongoing research. It will be interesting to see what role osteopontin plays in scoliosis. If it is found to play a significant role as this paper asserts, there very well may be therapies developed to treat scoliosis "before" it gets bad or even begins. That's why it is necessary to develop a test that can predict this, thus the work that is being done to develop the scoliscore. Osteopontin activity doesn't negate the fact, even according to the article you posted, that scoliosis has a strong genetic component. Like I said before, we should be hitting this from every angle.

They should also be doing studies on adults. That area of research is sadly lacking.

[Pooka1]

It's my understanding that poultry do not make good study models for humans. I could be wrong.

No you are probably right. The bone researcher said the same thing upthread and she would know... that is her game.

Just because removing a pineal gland from a chicken induces scoliosis doesn't mean that scoliosis is related AT ALL to AIS. Some things seem obvious.

[Pooka1]

I do find it interesting. This was an exerpt taken from this article.

[0071] As used herein the terms "likely candidate for developing adolescent idiopathic scoliosis" include children of which a least one parent has adolescent idiopathic scoliosis. Among other factors, age (adolescence), gender and heredity (i.e. born from a mother or father having a scoliosis) are factors that are known to contribute to the risk of developing a scoliosis and are used to a certain degree to assess the risk of developing AIS. In certain subjects, scoliosis develops rapidly over a short period of time to the point of requiring a corrective surgery. Current courses of action available

This is not the first time and will not be the last that Dingo posts things that undermine his position without realizing or addressing it. It is obviously correct to post counterarguments and try to explain why they are incorrect but he doesn't realize that he is even doing it so doesn't point it out when it occurs.

[mamamax]

You are not alone Dingo -

Just sharing some literature ....

Genetic aspects of adolescent idiopathic scoliosis in a family with multiple affected members: a research article
Published: April 7, 2010 http://www.scoliosisjournal.com/content/5/1/7

The etiology of idiopathic scoliosis remains unknown and different factors have been suggested as causal. Hereditary factors can also determine the etiology of the disease; however, the pattern of inheritance remains unknown.

Methods: Evaluation of 57 family members, distributed over 4 generations of a Brazilian family, with 9 carriers of adolescent idiopathic scoliosis. The proband presented a scoliotic curve of 75 degrees, as determined by the Cobb method. Genomic DNA from family members was genotyped.

Results: Locating a chromosome region linked to adolescent idiopathic scoliosis was not possible in the family studied.

Conclusion: While it was not possible to determine a chromosome region responsible for adolescent idiopathic scoliosis by investigation of genetic linkage using microsatellites markers during analysis of four generations of a Brazilian family with multiple affected members, analysis including other types of genomic variations, like single nucleotide polymorphisms (SNPs) could contribute to the continuity of this study.

And ....

Biopsy material from the skeletal muscle (paraxials) of 21 patients with scoliosis was examined by light and electron microscopy. Virus-like particles, 17 nm in diameter with a crystalline structure, were identified in the skeletal muscle fibres of four patients. Associated changes in the sarcoplasm included swelling of mitochondria, presence of lipid droplets, and vesicular structures. Serological studies and culture for virus isolation gave negative results. An excess of lipid (predominantly in type 1 fibres) was noted in the skeletal muscle of several other cases. The significance of these findings is obscure, but the morphology of the paraxial muscles of patients with scoliosis and controls is currently being investigated in greater detail. http://www.bmj.com/cgi/content/abstract/2/6041/912

I ponder future findings - Maybe this could be a matter of genetic predisposition + familiar/environmental factors .. no one knows beyond scientific shadow of doubt.

[twinsmom]

So How Do We Start /Fund more Research

Thanks for the interesting links. It seems as if there is a lack of committed and strong push for research. I know with some of the genetic diseases, they use the Amish and Mennonite large extended families for genogram mapping. One family just doesn't cut it in terms of being statistically significant. Probably longitudinal studies need to be created as well. They subjects are out there but once again you have the problem of more clincally orienatated docs having the info but not the time and maybe the interest in clinical research in all that entails... ie storage,data collection, stats person, and of course money. I would reccomend everyone read " The Cure" which came out in the movies with Harison Ford under a different name Medical ?. He was able to find the cure or some of it for his children. He knew and had the money and knowledge base do a research start up company. Also is the medical community liking this as a form of income? Just like Peds like the RH- problem because they would do a proceedure that saved the baby and was lucrative for them. I don't know? But Peds Ortho practices would have less patients. Just something to think about.

[flerc]

I did not read all the thread. Maybe it have not any sense what I’m saying, but I think that if osteopontin is the cause of scoliosis, then vertebrae wedge in scoliosis must to be terrific as much people says. Someone knows if it is true?

[Pooka1]

But Peds Ortho practices would have less patients. Just something to think about.

That's fine by me. The really good ones have more patients than they can handle and it is very hard to get an optimal surgery date vis-à-vis school with those guys without booking very far ahead.

[Dingo]

Right on!

Mamamax

That's another great study.

Methods: Evaluation of 57 family members, distributed over 4 generations of a Brazilian family, with 9 carriers of adolescent idiopathic scoliosis. The proband presented a scoliotic curve of 75 degrees, as determined by the Cobb method. Genomic DNA from family members was genotyped.

Conclusion: While it was not possible to determine a chromosome region responsible for adolescent idiopathic scoliosis by investigation of genetic linkage using microsatellites markers during analysis of four generations of a Brazilian family with multiple affected members, analysis including other types of genomic variations, like single nucleotide polymorphisms (SNPs) could contribute to the continuity of this study.

9/57 = 15.7%
Even a skeptic like myself has to admit that level of concentration suggests a strong, genetic susceptability. And yet they found nothing.

I hope the scientists involved in this study continue to look at SNPs or other genetic explanations but I doubt they'll find much. They probably mined the richest material first.

Something harmful is spreading through that family, and evidently it's not genes. The CDC should pay attention to studies like this.

[Dingo]

genetic disease

twinsmom

It seems as if there is a lack of committed and strong push for research. I know with some of the genetic diseases, they use the Amish and Mennonite large extended families for genogram mapping. One family just doesn't cut it in terms of being statistically significant. Probably longitudinal studies need to be created as well.

You are correct, more research is needed. By the same token scientists still consider the hypothesis that Scoliosis is caused by heredity "controversial". There are other explanations besides heredity. Families and extended families share more than genes.

Exhibit A)
Multiple Sclerosis runs in families. The following comes from the MS page on the Mayo clinic's website.

The risk of multiple sclerosis is higher for people who have a family history of the disease. For example, if one of your parents or siblings has had multiple sclerosis, you have a 1 to 3 percent chance of developing the disease — as compared with the risk in the general population, which is just a tenth of 1 percent.

Put simply if you have one close family member with MS your risk goes up by more than 1000%. That sounds pretty genetic to me.

But then this comes out...
MS Study Suggests Key Role of Environmental Factor in the Disease

"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.

Genes may or may not play a role in MS susceptability. Perhaps in some cases they do, in others not at all. More importantly if MS isn't triggered by heredity what else do families share that could cause this disease? Pathogens.

For a long time scientists have suspected that infection with a common virus is the environmental trigger for MS.
Further Evidence Links Epstein-Barr Virus and Risk of Multiple Sclerosis

"The observation that MS occurred only after EBV is a big step forward," said Alberto Ascherio. "Until now we knew that virtually all MS patients are infected with EBV, but we could not exclude two non-causal explanations for this finding: that EBV infection is a consequence rather than a cause of MS, and that individuals who are EBV negative could be genetically resistant to MS. Both of these explanations are inconsistent with the present findings," said Ascherio.

Now that we know that EBV infection (the virus that causes mononucleosis) is required to trigger MS what can we do about it?

"The evidence is now sufficiently compelling to justify the allocation of more resources to the development of interventions targeting EBV infection, or the immune response to EBV infection, as these may contribute to MS prevention," he said.

Long story short that means vaccination. Lucky for us one is in clinical trials right now.
Kissing the Epstein-Barr virus goodbye?

Glandular fever, a common disease in teenagers, is caused by the Epstein-Barr virus. Australian research on the Epstein-Barr virus has led to a glandular fever vaccine being trialled.

If scientists would start looking for the environmental half of Scoliosis instead of the genes that may or may not matter our grandkids would be a lot better off. I read a lot about this kind of thing and Scoliosis does not look like a genetic disease. Scientists need to start looking at the environment. When researchers look at genes it needs to be in the context of how does a particular gene make a child susceptible to the environmental damage that triggers Scoliosis.

[twinsmom]

Human Genome Project Disappointments

Sounds like we are confronting what the makers of the Genome Project have confronted - nothing is clear or simple gene wise and or environmental wise in terms of what actually interacts with genes, chromsones, cells, and organ systems.

I have recently heard that DS, MS, and Parkisnsonism maybe come from outside exposure of a containment/and or autoimmune issue even though DS has a specific gene attached to it.

Go figure. I have a hard time wrapping my mind around an outside force for AIS. It's very counterintuitive to see the problem coming from without and attacking the spine rather than from within. I would really prefer the outside theory. It takes away the guilt at least for me.

It's a very old disease much like Spina Bifida. So you can't readily blame modern day toxins. A virus would work but wouldn't that come out in the lab work? Or since they both are old problems is there something redeeming for our specisis that hasn't been looked for or discovered yet? This might come from those with less severe and no need for treatment type of populations.
Many have postulated that Skiziophrenia comes from a virus with those born in the winter months more likely to develop it. And with certain areas in the world having higher spikes. But still no clear answer.

With another family relative recently dx that bring's my family up to at 7.
Brazil - Midwest USA some sort of gene link must be somewhere. Again I would love to see a Mennoite/Amish like type of study. I think that would really make some headway into at least seeing what shows up and what doesn't. Then from there to other studies with different avenues. Both views expressed on the list have very valid points and both should not be ignored.

[Dingo]

pathogens

twinsmom

Many have postulated that Skiziophrenia comes from a virus with those born in the winter months more likely to develop it. And with certain areas in the world having higher spikes. But still no clear answer.

Actually in the case of Schizophrenia/Autism they've made quite a bit of progress. If you google you'll find a ton of stories on Schizophrenia, Autism, immune system and Interleukin 6. Here is one.

Maternal Flu Linked To Schizophrenia, Autism In Child

Surprisingly, the finger of blame does not point at the virus itself. Since influenza infection is generally restricted to the mother's respiratory tract, the team speculated that what acts as the mediator is not the mother's infection per se but something in her immune response to it.

A single, mid-gestation injection of poly(I:C) creates a strong immune response in a pregnant mouse. When her offspring reach adulthood, they display behavioral and tissue abnormalities similar to those seen in schizophrenia in humans.

[Dingo]

CNS disorder

Twinsmom

A virus would work but wouldn't that come out in the lab work?

One problem is that scientists don't know exactly where to look. Scoliosis appears to be a nervous system disorder, not a bone disorder. For reasons that aren't fully understood the nervous system triggers the body to grow incorrectly. We see a spine problem but the "break" is probably in the brain.

Scoliosis may (or may not) be something like Narcolepsy. Narcolepsy is an autoimmune disease in which a tiny bundle of cells in the brain are destroyed by the bodies immune system. When those cells are destroyed the brain loses the ability to properly regulate sleep.

Immune fault 'link' to narcolepsy

Dr Mignot said: "Narcolepsy is probably the result of a series of unfortunate events, starting with genetic predisposition, involvement of an environmental trigger such as an infection, then T-cell activation, then effects on many other arms of the immune system."

In the case of Scoliosis the brain appears to lose the ability properly regulate Melatonin.
Melatonin Signaling Dysfunction in Adolescent Idiopathic Scoliosis

Study Design. In vitro assays were performed with bone-forming cells isolated from 41 patients with adolescent idiopathic scoliosis and 17 control patients exhibiting another type of scoliosis or none.

Conclusion. Melatonin signaling is clearly impaired in osteoblasts of all patients with adolescent idiopathic scoliosis tested.