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Autism Gene Study Offers Hope For New Treatments

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Published: July 11, 2008

WASHINGTON - New research suggests that some cases of autism arise from defects in genes that can be turned on or off by mental activity, a finding that sheds light on the devastating condition and might eventually lead to strategies to treat it.

The findings are drawn from gene scans of about a hundred Middle Eastern families in which autism is unusually common. The disorder is marked by social isolation, speech problems, and strange repetitive activities.

The study, done by a large international team and reported Friday in the journal Science, adds to the growing evidence that autism may result from problems in the immensely complicated process by which some networks of brain cells expand and many others die back in the first few years after birth.

The fact that three of the half-dozen genes identified in the new report are regulated by "neuronal activity" - feeling, thinking, doing - suggests in theory that changing the experiences of autistic children could change the course of the disease.

"The genes implicated in our study are ones that interact with the environment and are involved in how the brain converts what it sees from the environment," said Christopher Walsh, a neurologist and chief of genetics at Children's Hospital in Boston, who headed the team. "If we can activate those genes by other mechanisms, we might be able to help the kids."

Other researchers agreed that the discovery that some "autism genes" are also "experience genes" is provocative and, at some level, hopeful.

"If that is a general mechanism, then the other genes that have been identified as associated with autism should be expected to be driven by activity as well. But we don't know that yet," said Daniel Geschwind, who directs the Center for Autism Research and Treatment at the University of California at Los Angeles.

"We have but the most primitive ideas about what the proteins coded by identified missing or mutated genes do," said Isabelle Rapin, a pediatric neurologist.

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