Scientists Link 'Sets' of Genetic Abnormalities to Autism Risk - US News and World Report

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Scientists Link 'Sets' of Genetic Abnormalities to Autism Risk - US News and World Report

Searching for links between genetic irregularities and abnormal motor control and/or learning disabilities, the study authors focused on so-called CNVs -- "copy number variations" -- that occur when the number of copies of a particular gene varies from one individual to the next. These CNVs accounted for relatively big chunks of the genetic mutations, the researchers said.

In all, about 800 CNVs were identified as exclusive to autistic children. In addition, the CNVs in question tended to be found in genes central to the impaired biological functions that show up in autistic behavior, such as those involving synapse function, nerve cell communication, and brain development, the CHOP researchers said.

Ashley Scott-Van Zeeland, a postdoctoral research fellow at the Scripps Translational Science Institute in San Diego, suggested that the new findings may ultimately enable researchers to approach the question of autism treatment with a broader brush.

"What this study found is that there are perhaps many autisms," she said. "There may be a number of unique or very rare genetic mutations associated with the disorder. But this suggests that they follow a common pathway that leads to autism.

"So that could mean that instead of the old paradigm of finding one mutated gene or protein and then developing a drug targeting just for that, now we could look for entire pathways involved in autism. And then potentially we could intervene with those processes with new therapeutics," she added.