A single gene can cause Autism....opinions?

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TheAvenger161173
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20 Oct 2016, 5:40 pm

http://www.iflscience.com/health-and-me ... se-autism/ "Autism is a complex disorder that is normally produced by the combined effect of multiple genes, but a Washington University-led team of researchers has discovered that in some cases, a mutation to a single gene can produce the full range of symptoms associated with the condition. Hopefully, this finding will massively simplify the job of scientists trying to understand autism, potentially leading to new treatments and therapies.

The team were working with a group of 531 children with a condition called neurofibromatosis type 1, which causes tumors to grow along nerves. Produced by a mutation to a single gene, known as the NF1 gene, the condition has also been associated with autism, although until now there had been little proper evidence for this.

To confirm this association, the study authors assessed each child in order to produce a quantitative autism trait (QAT) score, which indicates the number and severity of their autism-like symptoms. Reporting their findings in the journal JAMA Psychiatry, they reveal that the number of participants with QAT scores of higher than 75 percent was 13 times greater than in the general population, suggesting that a mutation to the NF1 gene does indeed cause autism.

Importantly, the nature and severity of symptoms varied greatly between all patients, indicating that this one gene is capable of producing the full spectrum of autism traits.

“What's unique about our findings is that it's likely mutations in the NF1 gene are driving most of the symptoms of autism in children with NF1," said the study's co-author John Constantin in a statement. This is significant because it means that by studying the role of the NF1 gene, researchers may now be able to identify all of the biological processes that are disrupted in autism.

Even though many of these pathways are also affected by other genes, focusing on NF1 could provide a unique opportunity to devise new therapies that treat the underlying cause of autism, although much more work will be needed before this can be made a reality."



rats_and_cats
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20 Oct 2016, 5:55 pm

Sounds like a cure. My skin crawled. It would be like having a "cure" for introversion. This will either lead to gene "therapy" or abortion. And I think society needs autistic people. Not that we're the most important group, but society needs many different brains to see things from many different perspectives in order to move forward. Removing one set of eyes blinds everyone.



mended
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21 Oct 2016, 1:28 am

I had my DNA profiled by 23&me.

There was a post on the forum there about 8 genes which (may) work together to make autism. The post described whether the gene was C/G or A/T for the relevant genes. I found that some of the genes mentioned had not been tested. I had most of the others though.

I will be interested to know what I should be looking for in this latest research in terms of C/G or A/T.


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21 Oct 2016, 1:41 am

Fragile X Syndrome can look like AS and is often misdiagnosed as AS. It's FXS that is linked to the single gene, not ASD conditions. There is a thread on this I opened last month on WP, and there are others prior to that too.

https://fragilex.org/fragile-x/fragile- ... different/
http://www.fraxa.org/fragile-x-syndrome/cause/



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21 Oct 2016, 6:57 pm

It's interesting but I doubt a single gene alone can cause autism.the problem with association studies is that causation isn't the same as association. Plus further studies need to be done into the gene expression, is it altered enough to make a signifiat difference. It's sounds like to me that it isn't the only gene involved and isn't presentry in every person who displays with autism (there are probably other genes that contribute).

Although this would support to a degret the theory that the brain in an autistic is different to an NT.



Voynich
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22 Oct 2016, 4:34 pm

This is probably quite easy to read too much into. The researchers were careful to call what they observed in the children with neurofibromatosis "NF1-ASD," to distinguish it from idiopathic, non-NF1 ASD. They're only suggesting that they perhaps have a sort of model of a range of mutations in a single gene leading to autistic symptoms. Not that NF1 mutations are the specific source of autistic phenotypes in general.

mended wrote:
I will be interested to know what I should be looking for in this latest research in terms of C/G or A/T.


As far as I understand it, which isn't very far, the major genetic variations associated with neurofibromatosis are deletions, on a scale that isn't assayed on SNP chips of the kind 23andme use.
There's an example table from a study on NF1 showing that a team found about as many pathological variants in the NF1 gene as there were people with neurofirbomatosis in their study - tens of them were SNPs, but all the ones (maybe 20) that I bothered to check for database entries are not on the 23andme chip. I think the idea is that the underlying genetic cause of NF1-ASD is significant enough to cause neurofibromatosis. So without actually having NF the SNPs probably aren't associated with ASD. The interesting thing is that variations in this single gene can so confidently predict ASD symptoms in people with NF - not that this NF1 gene is the gene associated with ASD in general. So yes, what Alliekit said.

mended, have you seen this thread?