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Scientists Link 'Sets' of Genetic Abnormalities to Autism Risk
Date:3/1/2011

TUESDAY, March 1 (HealthDay News) -- While the genetic underpinnings of autism are enormously complex, new DNA research is honing in on sets of abnormal genes that may play a role in the disorder.

Researchers from the Center for Biomedical Informatics at The Children's Hospital of Philadelphia (CHOP) said that, while other scientists have theorized about a connection between gene mutations, impaired brain development, and the onset of autism, their work is the first to establish the link.

The medical problem, the CHOP researchers said, has to do with genetically driven disturbances in the way nerve cells communicate (via synapses) as well as the manner in which these communications are handled by key neural "messengers," or neurotransmitters.

"This large study is the first to demonstrate a statistically significant connection between genomic variants in autism and both [nerve cell] synaptic function and neurotransmission," senior author Peter S. White, a molecular geneticist and director of the Center for Biomedical Informatics, said in a hospital news release.

White and his colleagues report their findings in the March 1 online issue of Molecular Psychiatry.

The study authors pointed out that while prior research has implicated individual gene abnormalities with an increased risk of autism, each particular abnormality that has been identified to date has been linked to very small percentage of autism cases.

What's new about the current effort, the team said, is the uncovering of entire collections of genes with similar neural roles which, taken as a group, seem to be associated with a greater proportion of autism risk.

The finding stems from a DNA analysis involving about 1,000 autistic children and their families, as well as parallel research with mice.

Searching for links between genetic irregularities and abnormal motor control and/or learning disabilities, the study authors focus
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