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New Genetic Clues to Autism Found

2 New Gene Mutations Linked to Autism

Tracking Autism Genes: Implications

While there is no immediate application of the discovery for parents, Notterman says the new research suggests that ''science is probably on the right track over the next decade to understand much more about the basic biology of autism.''

The recurring theme recently, he says, is the finding of structural variations in the DNA that cause mutations in the genes affecting the synapses.

Second Opinion

The new findings reflect the complexity of the origin of autism, says Daniel Coury, MD, chief of developmental and behavioral pediatrics at Nationwide Children's Hospital in Columbus, Ohio, and medical director of the Autism Treatment Network, a consortium of 14 U.S. and Canadian sites focused on improving treatment.

''There was the popular belief that we were going to find 'the gene,'" says Coury, who reviewed the study results for WebMD.

''That got expanded," he says, as ongoing research turned up several more genetic mutations associated with autism.

The recent research also suggests that genetic mutations don't seem to affect everyone equally, he says. "One of the things that was interesting," he says, "is they are seeing variations, where there are less complete [genetic] deletions in some people than in others."

Some families, he says, appear to be at greater genetic risk due to small changes in the mutations that might change how a gene is expressed. That, in turn, could affect the severity of the autism features and symptoms, he says.

While the study adds to the evidence of a genetic basis for autism, the possibility of environmental triggers is still present, Coury says. "The research is further confirmation that autism is probably caused  by an interplay of genetics and environmental factors."


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