Thursday, June 10, 2010

Why So Many Genes in Autism Research? Copy Number Variations

Genetic Autism Research has been plagued by confusing results:  to date there are over 22 genes whose variations have been linked to Autism, and it seems to keep growing.  And the additional problem of different variations within the genome has been problematic when trying to identify direct causation.  So much so that many in the Autism community (mostly those who remain staunch supporters of the vaccine cause) have pointed to these variations and confusing results as proof that autism is not genetic. 


So why are there so many different genomes that are linked to Autism?  Well, as Businessweek is reporting, and as located in the June 10th issue of Nature, it seems to be linked not to genes directly, but to the results of copying DNA, known as copy number variations.  It seems that as the genes are copied, either there are too many copies of the gene, or too few copies of the gene when compared to the control group of neurotypical people.  This means that the DNA duplicating system is creating new sets of genes that are "mutated", in that their sequences are either duplicated or overly short. 


The interesting thing about this research is that the results of the copy number variations can be inherited from parents, or new variations can be created that are independent of the parental genetic contribution.  The results therefore can be compounded and become more prolific, either by inheritance or through individual mutation. 


It's possible to manage the effects with medication, though current research sees medical solutions to be further off than within the next couple weeks (or years).  But the research itself is pretty stunning, providing hope that Autism can finally become understood as a genetic trait that happens through a natural, genetic process, instead of some government or industrial conspiracy. 


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