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ASPartOfMe
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03 Dec 2016, 5:18 am

New Form of Autism Found by Institute of Science and Technology Austria

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There are many different genetic mutations causing autism, and they are all very rare. This heterogeneity makes it difficult to develop effective treatments. Our analysis not only revealed a new autism-linked gene, but also identified the mechanism by which its mutation causes autism. Excitingly, mutations in other genes share the same autism-causing mechanism, indicating that we may have underscored a subgroup of ASDs.


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naturalplastic
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03 Dec 2016, 6:31 am

The story's headline is misleading. Apparently they did NOT find any "new kind of autism". They found a new cause for the same old types of autism that they always knew about.But it is interesting that they are zeroing in on both the genes, and on the mechanisms by which the genes cause autism.



Alliekit
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05 Dec 2016, 10:05 am

Actually it does suggest a molecular subgroup of autism that could be trear able although it would be a very very rare occurance.

Here is the conclusion paragraph for those who cannot acess full paper

Quote:
Notably, besides representing a new subgroup of ASD, BCAA-related ASD may also represent a group of treatable conditions. Indeed, BCAA dietary administration in BCKDK null mice and humans (Novarino et al., 2012), as well as leucine and isoleucine i.c.v. injection in adult Tie2Cre;Slc7a5fl/fl mice lead to a significant improvement of the neurobehavioral abnormalities



johnnyh
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06 Dec 2016, 9:18 pm

I wonder if these are syndromic forms of autism or another group of risk genes. There could be people with the same genes yet no autism due to an absence of a toxic environmental factor or compensation by other parts of the genome. I'm betting again on the epigenome being responsible.


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