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Thread: More on the Genetics of Scoliosis

  1. #16
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    Look in the article I posted from Carol Wise about how scientists deal with this data set in the context of other data sets. Note they do NOT single out one that they like which is what lay people tend to do and what you continually do.

    Scientists continually add new results to the old results and adjust their hypotheses. They don't pick a result they like and ignore the other studies that contradict the one study.

    As I have mentioned several times before and you have yet to take on board, you seem to like this study with SELF-REPORTED data that is not in agreement with several other studies. Self reported by, wait for it... lay people. Your people. These people, you, have NO relevant training to be discussing these articles and it shows in your cherry-picking. Scientists acknowledge consensus when it exists not because it means that position is correct but because TRAINED people are leaning that way at that moment. You ignore consensus for whatever strikes your lay fantasy based on ZERO scientific training. And it shows.

    Garbage in, garbage out is one explanation for the one twins study with SELF-REPORTED data. Carol Wise is more circumscribed in describing that study.
    Sharon, mother of identical twin girls with scoliosis

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  2. #17
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    To be clear, you, a random lay person with no relevant training, DISagree with the experts in this field.

    I think we can go home now.
    Sharon, mother of identical twin girls with scoliosis

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  3. #18
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    Quote Originally Posted by Dingo View Post
    Don't ask me why I posted this after months of MIA happiness and bliss. After working out with Scott tonight some instinct deep inside told me that I needed to check in.
    Too bad you didn't resist the urge. The forum has had months of bliss as well.
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    also mom of Torrey, 12 y/o son, 16* T, stable

  4. #19
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    I've stayed too long. I only stopped by to make one quick point.

    The entire Scoliosis research community knows that all 52 genes that Scoliscore tests for were found to be false positives during both attempts at outside verification. That includes Chisa Shukunami, DDS, PhD, Professor in the Department of Molecular Biology and Biochemistry at Hiroshima University who said this.
    A genetic test called the ScoliScore AIS Prognostic Test already exists for adolescents recently diagnosed with scoliosis to predict if the curve of the spine will get worse, which can guide treatment decisions.
    Keep in mind that Scoliscore's first verification failure occurred in Tokyo, Japan just 500 miles away from Chisa Shukunami, DDS, PhD.

    Ponder that for yourself.
    Last edited by Dingo; 04-23-2016 at 06:57 PM.

  5. #20
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    You don't get it.

    Quote Originally Posted by Dingo View Post
    I've stayed too long. I only stopped by to make one quick point.

    The entire Scoliosis research community knows that all 52 genes that Scoliscore tests for were found to be false positives during both attempts at outside verification. That includes Chisa Shukunami, DDS, PhD, Professor in the Department of Molecular Biology and Biochemistry at Hiroshima University who said this.


    Keep in mind that Scoliscore's first verification failure occurred in Tokyo, Japan just 500 miles away from Chisa Shukunami, DDS, PhD.

    Ponder that for yourself.
    Sharon, mother of identical twin girls with scoliosis

    No island of sanity.

    Question: What do you call alternative medicine that works?
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    "We are all African."

  6. #21
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    Quote Originally Posted by Dingo View Post

    The entire Scoliosis research community knows [...]
    You CLEARLY don't have the first clue what the "entire Scoliosis research community knows" yet you will pretend you do and speak for them. This is beyond arrogant. How does this help anyone including you?
    Sharon, mother of identical twin girls with scoliosis

    No island of sanity.

    Question: What do you call alternative medicine that works?
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  7. #22
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    Quote Originally Posted by Dingo View Post
    I've stayed too long. I only stopped by to make one quick point.
    People would rather hear about:

    1. why you stopped updating the group about your son's treatment

    2. WHETHER your son is still doing the PT

    Why don't you stick to that stuff and not continually diving into the deep end of science with no life jacket?
    Sharon, mother of identical twin girls with scoliosis

    No island of sanity.

    Question: What do you call alternative medicine that works?
    Answer: Medicine


    "We are all African."

  8. #23
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    Quote Originally Posted by Dingo View Post
    I believe 5 studies have connected Scoliosis with low levels of Vitamin D. However they haven't determined whether it is a cause or consequence of Scoliosis.

    Vitamin-D measurement in patients with adolescent idiopathic scoliosis. 2016 Apr 15

    Association of Calcium and Phosphate Balance, Vitamin D, PTH, and Calcitonin in Patients With Adolescent Idiopathic Scoliosis. 2016 Apr

    Vitamin D is a subject of growing interest because different groups of scientists in different parts of the world are finding the same thing. Not true for the gene hunters. Every gene in the Scoliscore test was UNfound when independently tested. Twice.
    I'm only going to respond to what you've said to me. I haven't read the rest, yet. There most certainly could be a common mutation that causes people to have low vitamin D levels. My daughter and I both have/had very low levels, 11 and 12 respectively. However, my other sister was also found to have very low levels does not have scoliosis. So there is more to it than vitamin D deficiency, not saying it doesn't exacerbate it in those with scoliosis. It is also well known to be linked to depression and Seasonal Affective Disorder. Anyone who has prolonged vit D, calcium, or phosphorous deficiencies will be prone to osteopenia and eventually osteoporosis.

    I still think that it's genetic in some cases. Some cases could be caused by malnutrition and a host of other things. The fish and the mice that I mentioned previously ALL died after developing kyphosis, although I have seen plenty of scoliotic fish in other fish tanks that seem to do fine. So maybe there is a difference there. Who knows? I'm not going to argue this post. I looked at your other thread. It belongs on THIS thread. You don't need to start a new thread for the same topic. Just my opinion. I guess you want people to see the new paper? There are productive arguments and there are arguments that people start because they are bored and have nothing more exciting to do. Please don't fall into the latter category because it appears that you are according to the way you introduce the article in the thread you started. I'm not even going to comment on it.

    Rohrer01
    Last edited by rohrer01; 04-25-2016 at 12:07 AM.
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  9. #24
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    Quote Originally Posted by Dingo View Post
    Evidently these people didn't get the memo. Scoliscore Failed It's Second, Independent Analysis. Every gene in the Scoliscore test was found to be a false positive by two separate, independent labs. Every. Single. One. False.
    How did these labs check these "genes" or DNA segments? Did they check each one individually or grouped together. I would like to know more. I have lost some faith in Scoliscore, but am not convinced entirely either way. I was included in that study and my scoliosis was believed to be idiopathic and it turns out to be neuromuscular. With that in mind, if there are many more like me in the study, it could invalidate the results UNLESS idiopathic scoliosis is related to having muscle diseases, which is quite possible. Not all muscle diseases are fatal. More than two studies are needed for the number of loci found when Scoliscore was developed.

    Muscular Dystrophy, as most laymen know it as there are many forms, is a disease that you would "think" would disappear because of the nature of the disease. It causes extra DNA repeats that when transcribed in the cell make floppy, less functional proteins. With each generation it appears earlier because the offspring for some unknown reason have more repeats on their DNA than their affected parent. This makes the protein more floppy and even less functional. Eventually the chains become so long that the offspring don't live long enough to reproduce, thus ending the disease. YET the same mutation spontaneously appears randomly in other people and they don't know they have it until they are pretty old and have already had children. Thus the cycle starts all over again. I know a family where the dad was still going in his sixties. He didn't KNOW he had MD until LONG after he had FOUR children. Three of his four children developed MD very young and had symptoms before he did. He was tested and found to have it. I knew the youngest three very well. The two oldest were married. The oldest was affected. The two younger girls were much younger than their sisters (yes, all girls and irrelevant). The youngest ones when I knew them were nine and 11. They were already so far gone that they probably didn't make it to adulthood, at least the 9 year old. She had symptoms as young as less than two years old. The "unaffected" one didn't want to be tested so wasn't sure AND she was about to have a baby when I moved and lost track of them. She was pretty paranoid about any muscle twitch she had. I can't understand that logic of not testing, but it was her choice. She could be more like her dad and develop symptoms later on.

    Where does natural selection fit into diseases like this where the same mutation just pops up at random in unrelated families? I'm not saying that natural selection doesn't exist. I AM saying it doesn't exist to the extent that you put faith in, otherwise this just wouldn't happen. The disease would just die out in that family line and be gone forever. "Something" is causing the same mutation to keep appearing. Perhaps something goes commonly wrong during meiosis? It would HAVE to be at that stage. That is the germ cell and from that point on it is heritable. What makes you think it can't happen with scoliosis and have several "brands" for a better word? Just as there are different types of MD, as in my family, there can also be different types of scoliosis.

    Did you know that there is no test for ALS even though there is a familial form? They haven't found the gene. It's usually random in a single person and isn't heritable. But there's the one type that is. If they could find the gene, they could test and see which form. They haven't found it. Does it mean it doesn't exist? No!

    Your whole idea of heredity DOESN'T mean that any of these biomolecular pathways in the cells can't involve disruption in vitamin, mineral, or hormonal (melatonin hypothesis) function in the cells, either. You can't fix it by taking megadoses of the mentioned items if the cells can't process them properly. All you will end up with is normal levels of "whatever" in the blood (normal blood panels) and still have disease. So all these papers you post may point to pathways and give us clues. But they certainly do NOT prove that any form of scoliosis isn't heritable. Does that mean that they aren't valuable? NO! They are. They just don't prove that there is no heredity involved. Could there be forms of idiopathic scoliosis that aren't heritable? Certainly! Look at the example of ALS that I gave. There are, as far as we know, two types; non-heritable and heritable or familial as they call it. So in families where there is no history of scoliosis, you could be right. However, the vast majority of idiopathic cases that I've seen first hand, there are other affected family members making it a genetic disorder. In fact, the random cases could be heritable. You won't know with your son until he has children and grandchildren (recessive forms tend to skip generations unless the mate is a carrier) and none show up. He could be the product of a germ cell malfunction and pass it on. YOU DON'T KNOW and neither do we.

    Food for thought.
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  10. #25
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    Quote Originally Posted by rohrer01 View Post
    I'm only going to respond to what you've said to me. I haven't read the rest, yet. There most certainly could be a common mutation that causes people to have low vitamin D levels. My daughter and I both have/had very low levels, 11 and 12 respectively. However, my other sister was also found to have very low levels does not have scoliosis. So there is more to it than vitamin D deficiency, not saying it doesn't exacerbate it in those with scoliosis. It is also well known to be linked to depression and Seasonal Affective Disorder. Anyone who has prolonged vit D, calcium, or phosphorous deficiencies will be prone to osteopenia and eventually osteoporosis.
    I had such a low Vit D level that I was put on 50,000 units daily for 4 months. I am outside a lot and don't use sunscreen (I know... bad) because I know I have low Vit. D. I don't have scoliosis.

    Next.
    Sharon, mother of identical twin girls with scoliosis

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    Question: What do you call alternative medicine that works?
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    "We are all African."

  11. #26
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    Quote Originally Posted by rohrer01 View Post
    How did these labs check these "genes" or DNA segments? Did they check each one individually or grouped together. I would like to know more.
    Dingo has no clue how labs check things or do things at all or why the Scoliscore work is not the same as the other molecular work. He can't explain why the SRS still mentions Scoliscore and clearly is misusing terms and isn't making any sense. Some of what he writes isn't even wrong because there is no content to the sentence. It's like he is saying invisible purple unicorns are hollow. He uses terms he clearly does not understand.

    Where does natural selection fit into diseases like this where the same mutation just pops up at random in unrelated families? I'm not saying that natural selection doesn't exist. I AM saying it doesn't exist to the extent that you put faith in, otherwise this just wouldn't happen. The disease would just die out in that family line and be gone forever. "Something" is causing the same mutation to keep appearing. Perhaps something goes commonly wrong during meiosis? It would HAVE to be at that stage. That is the germ cell and from that point on it is heritable. What makes you think it can't happen with scoliosis and have several "brands" for a better word? Just as there are different types of MD, as in my family, there can also be different types of scoliosis.
    Dingo has proven over and over that he doesn't understand natural selection or anything scientific he pretends to understand. This is the latest example.

    Your whole idea of heredity DOESN'T mean that any of these biomolecular pathways in the cells can't involve disruption in vitamin, mineral, or hormonal (melatonin hypothesis) function in the cells, either. You can't fix it by taking megadoses of the mentioned items if the cells can't process them properly. All you will end up with is normal levels of "whatever" in the blood (normal blood panels) and still have disease. So all these papers you post may point to pathways and give us clues. But they certainly do NOT prove that any form of scoliosis isn't heritable.
    Dingo does not understand how any of this works and it shows in every post he makes.
    Last edited by Pooka1; 04-25-2016 at 07:11 AM.
    Sharon, mother of identical twin girls with scoliosis

    No island of sanity.

    Question: What do you call alternative medicine that works?
    Answer: Medicine


    "We are all African."

  12. #27
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    Emphasis added...

    Quote Originally Posted by Dingo View Post
    The entire Scoliosis research community knows that all 52 genes that Scoliscore tests for were found to be false positives during both attempts at outside verification.
    The Scoliscore test involves 53 (not 52 as you stated) single nucleotide polymorphisms (not genes as you stated). These things are different but your lay imagination lumped them together in your abject ignorance of all things scientific.

    You don't know what the hell you are talking about and it shows. In every post. In spades.

    Stick to talking about what you do know like your son's treatment and radiographic evidence.

    Here is some material on SNPs to educate Dingo...

    https://ghr.nlm.nih.gov/primer/genomicresearch/snp

    https://www.23andme.com/gen101/snps/

    http://learn.genetics.utah.edu/content/pharma/snips/
    Last edited by Pooka1; 04-25-2016 at 07:35 AM.
    Sharon, mother of identical twin girls with scoliosis

    No island of sanity.

    Question: What do you call alternative medicine that works?
    Answer: Medicine


    "We are all African."

  13. #28
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    If Scoliscore does not pan out in the end, that has ZERO bearing on:

    1. the evidence that is in that is consistent with IS being genetic and heritable

    2. the ongoing work on the genetics of IS.

    This is why lay people like Dingo should stop talking about science when they clearly have ZERO understanding and ZERO training.

    This is why Google is a double-edged sword. Lay people can now imagine they understand everything without years of study and think they know more than the consensus of experts.

    Most honest lay people admit they don't understand these things, have no training, and don't opine about them. Then we have the arrogant lay folks like Dingo who continue to pretend to know more than the experts. It is so breath-taking to witness.
    Last edited by Pooka1; 05-11-2016 at 07:01 AM.
    Sharon, mother of identical twin girls with scoliosis

    No island of sanity.

    Question: What do you call alternative medicine that works?
    Answer: Medicine


    "We are all African."

  14. #29
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    Quote Originally Posted by Pooka1 View Post
    If Scoliscore does not pan out in the end, that was ZERO bearing on:

    1. the evidence that is in that is consistent with IS being genetic and heritable

    2. the ongoing work on the genetics of IS.

    This is why lay people like Dingo should stop talking about science when they clearly have ZERO understanding and ZERO training.

    This is why Google is a double-edged sword. Lay people can now imagine they understand everything without years of study and think they know more than the consensus of experts.

    Most honest lay people admit they don't understand these things, have no training, and don't opine about them. Then we have the arrogant lay folks like Dingo who continue to pretend to know more than the experts. It is so breath-taking to witness.

    Just to play devil's advocate - take a look at this

    http://edzardernst.com/2016/03/mind-...ce-over-truth/


    There are some crap studies being done and getting published.

  15. #30
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    To those of you who are reading this discussion; SNPs or single nucleotide polymorphisms are a switch in ONE nucleotide in the chain of DNA. DNA is made up of four nucleotides that pair together with one another. That's it. Our whole genetic system, and that of every other living organism is made up of these four nucleotides, from bacteria to plant life to humans. A switch in just ONE nucleotide pair in the wrong spot can wreak havoc.

    Most people think there is just ONE gene, which is a whole series of nucleotide combinations from short to very long, is what determine every trait we have or every genetic disease we have. It was believed until the 1990s that eye color was determined by one gene. That is NOT the case. Several genes control eye color. That is an example of a polygenic trait. For example, my sister has blue eyes and her husband has light eye color that tends to appear to change depending on what he wears, not a true hazel, which is gold. So you would expect that all of their children would have light eye color, whether it be blue, green or the multicolored eyes of their father. Well low and behold they had a son with very dark brown eyes. Up to the 90s people would have assumed that she cheated on her husband to have a son with such dark eyes. It certainly was NOT the case. He is the spitting image of his father except for his eye color. Many diseases work the same way. Some are caused by a single "gene" and others are cause by multiple mutations and not just one gene. They can vary in the combination and amount of mutations. They are polygenic diseases. There can also be one or more mutations on a single gene. Some of these mutations are harmless by themselves and the "gene" will still function and make the proper protein. Sometimes there are combinations of mutations on a single gene that will cause disease. Sometimes several different "genes" are involved.

    People often misuse the term "gene". That's why I keep putting it in parentheses. A gene is, like I mentioned, is a series of nucleotides that gets transcribed by tRNA and then goes through a process in the cell that ends up putting out a gene product which most people like to call proteins. In the genetic world, we don't use protein for every gene product. But whatever you call it, it has a specific function in the cell and eventually in the body since we are made up of cells. So you can have a mutation/s, in fact we all do, that are in sections of our DNA that cause no harm to us at all. Not all of our DNA is functional in making gene products or genes. In fact most of it isn't involved in that. Scientists are still trying to figure out what all this excess DNA does!

    So don't be fooled by people saying that there is a gene for this or a gene for that. Life for a geneticist would be so much easier if that were the case. This is also why the study of genetics is so difficult, especially when looking for the segment/s of DNA responsible for causing disease.

    I happen to have two mutations on ONE gene that causes different forms of a disease called Charcot Marie-Tooth (CMT). One mutation or "allele" is well known to cause a mild case of the disease. This is a recessive form of the disease, so in order to have the full blown disease two copies of the mutation or "alleles" are required. That makes me a carrier for the mild form of the disease. But, I also have a mutation on a part of the gene that causes the worst form of CMT. This mutation is only known to be harmless in "other species". They don't know squat about what it does in humans. Maybe if it were to stand alone, meaning that I have no other mutations on that gene, it would be harmless. But in combination with the other allele that I have no one knows. All they know is that I have something that appears to be dominant and is lethal. I can't say for sure whether this is even related to what I have. I have my suspicions. But, 1) nothing is known about this mutation in humans, and 2) nothing is known whether this mutation becomes lethal when in conjunction with the known mutated allele. I'm just using myself as an example. I have six other family members that show signs of this disease. One died from what we believe to be this condition. THAT is how genetics works. It can be confusing and exacerbating for even the best geneticist. This is just an example of how hard it can be to find genetic causes for diseases.

    When diseases tend to run in families a geneticist will attempt to diagram affected members and whether they are male or female. This is called a pedigree. It's a family tree that takes both sides of the family and marks individuals on that tree that show symptoms. This is how they figure out if it dominant, recessive, or sex-linked. Researchers work tirelessly to try to find common mutations in the genomes (DNA sequences) of the affected family members if they are still alive. IF they find a common mutation/s in each member that are NOT found in healthy individuals, then and only then can they look to find more families with the same mutations that present with the same illness. If they do, then they can say they found the genetic cause. They don't necessarily say they "found the gene that causes this disease". It may not be on just one gene, or if it turns out that it is, then and only then can they say they found the gene that causes this or that disease. Many diseases ARE caused by a defect in a single gene. As an example the BRCA gene that causes breast cancer. BUT there are BRCA1 and BRCA2. These are two different mutations that cause breast cancer and have been identified on the BRCA gene. They are on the same "gene" but are not exactly the same in how they cause disease. You will hear people say that they have the BRCA gene and are at high risk for breast cancer. Everyone has a BRCA gene. What the geneticist told them is that they have a mutation on the BRCA gene that causes breast cancer. That is NOT how the layman interprets it. We know this by how they relay it to others.

    My best guess is that there is more than one set of mutations that cause scoliosis, just as there are for muscle diseases (not all are "dystrophies"). So they aren't going to ever find THE "gene" that causes IS. My guess now is, based on what we know and personal experience, that they are going to find IS cases connected to other conditions that people are not aware that they have. The IDEA about Scoliscore is ingenious! It is pretty recent that the whole human genome has been mapped (within the last 15-20 years). So it will take some time to connect the dots as to who has what and who is most at risk for progression.

    I hope I made this more easy to understand.

    Rohrer01
    Last edited by rohrer01; 04-27-2016 at 06:22 PM.
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