Wednesday, April 11, 2012

Autism Linked to Inherited Gene Mutations

Per a recent ABC News article, "[...] many scientists agree that the growing autism numbers may in part be attributed to certain genetic mutations that are most likely inherited from the father, according to the combined findings of three studies published Wednesday in the journal Nature.

The studies are the largest to date to use whole-exome sequencing, which decodes the protein in both children and their parents, an arguably more precise method of detecting genetic mutations in multiple genes that may be associated with autism.

The findings from one of the studies supports mounting evidence suggesting that the older the father, the higher the chance the child may develop some form of autism.

In another study, researchers who compared siblings with and without autism found that the sibling with autism had two different mutations of the gene SCN2A.

Genetic mutations found in the child with autism that were not found in either parent are likely not associated with autism, one of the studies concluded."

The full ABC News article can be found here:  Autism Linked to Inherited Gene Mutations, Particularly From Dad

A similar New York Times article referencing the same studies can be found here:  Scientists Link Gene Mutation to Autism Risk

And the studies can be found here (note registration is required to read some of the full studies):

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Please don't misunderstand these studies, the articles, or my comments.  This data does not prove a root cause of autism and there is much, much more work to be done.  However these studies do show us a link, and finding more and more of these links coupled with determining other risk factors can lead us to the true cause somewhere down the road. 

Studies like this are crucial if we wish to find the true root cause of autism, however you aren't about to hear many antivaxxers talking about them because any discussion which surrounds genetic risk factors reduces the chances that their vaccination fears are justified.  The reality is we see more and more autism research coming out almost on a weekly basis, and to date none of it has ever shown a link between vaccines and autism.

Perhaps it is time some of these antivaxxers such as Lowell Hubbs started to pay attention to this research and modify their hypothesis.  Rest assured I don't suspect that will happen, but the more data and research that we have on the subject, the more foolish these antivaxxers look.  I can only assume it gets tiring for them to keep developing new and clever excuses to explain away the mountains of evidence which fly in the face of their "vaccines cause autism" unsupportable theories, but true to form you can expect them to slide the goalposts yet again as they try to spin this in their favor.

Antivaxxers are nothing if not consistently misleading and flat-out dishonest.

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