New Genetic Autism Link Discovered
> 5/7/2009 9:43:22 PM

The latest in a series of discoveries regarding the genetic roots of autism makes for another fascinating piece of the ASD (autistic spectrum disorders) puzzle. The numbers behind the report are impressive, and they will at the very least suggest new directions for research.

The gene in question lies between CAD 9 and 10, two links in the DNA chain that serve to activate the neurological system’s version of superglue, encoding connective molecules that allow various neurons to grow together and share the electric messages that make our brains work. Researchers at the Children's Hospital in Philadelphia reviewed the DNA sequences of 2500 autistic individuals and 7000 controls – a significant subject pool that leaves little room for statistical anomalies. Their results were striking: they noted a specific variation on this gene in 65% of autistic individuals. And the fact that the gene plays a crucial role in synchronizing the brain makes it a likely candidate for the a central role in the ASD equation.

While most of the gene variations named as possible autism cues are rare and apply to only a small minority of cases, this one is amazingly common. Its ubiquitous nature actually negates the study’s results to some degree. The gene is almost as common among the general population as it is within the autistic sample: 60% of all individuals studied in this case carried the gene. Not only is it not exclusive to autistic people, it’s present in a majority of the population.  The study’s head researcher estimates that the gene plays a role in only 15% of autistic cases.

But the stats are more significant than they seem. 5-10% looks like a small number, but it grows statistically significant when applied to the general population. The gene is clearly far more common among autistic individuals. ASDs grow from the affected brain’s inability to share messages effectively. The gene that researchers observed in this study acts to facilitate those very connections, so it’s natural to draw a link between the gene itself and the neurological chaos of severe ASD. This newest candidate is only one of 133 genetic variations linked to autism. But it’s the most common – making it the most convenient test subject. Now the scientific community will aim to clarify the link between these broken neural connections and the condition itself. The future of autism research and treatment looks a bit brighter for their efforts.

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