Gene Variant is Associated With Both Autism, Gastrointestinal Dysfunction
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Gene Variant is Associated With Both Autism, Gastrointestinal Dysfunction

LOS ANGELES -- March 2, 2009 -- Researchers have identified a specific gene variant that links increased genetic risk for autism with gastrointestinal (GI) conditions. The study appears in the March issue of the journal Pediatrics.

The findings suggest that disrupted signaling of the MET gene may contribute to a syndrome that includes autism and co-occurring gastrointestinal dysfunction, according to principal investigator Pat Levitt, PhD, Zilkha Neurogenetic Institute, Keck School of Medicine of USC and chair-designate of the Department of cell and neurobiology.

While gastrointestinal conditions are common among individuals with autism, researchers have long debated whether co-occurring GI dysfunction represents a unique autism subgroup.

"…Our study is the first to bring together genetic risk for autism and co-occurring GI disorders in a way that provides a biologically plausible explanation for why they are seen together so often," said Dr. Levitt.

The MET gene is expressed in developing circuits that are involved in social behavior and communication, and plays an important role in development and repair of the GI system.

Researchers analysed medical history records from 214 families in the Autism Genetic Resource Exchange (AGRE). They found that a variant in the MET gene was associated with autism specifically in those families where an individual had co-occurring autism and a GI condition.

The study brings researchers closer to understanding the complex genetic risks for autism. However, further research is needed, as different combinations of genes are likely to result in different types of autism features, said Levitt.

"We believe that there are other genes that will help identify different subgroups of individuals who have autism spectrum disorder," he said. "We also believe that there needs to be research looking at whether the children with co-occurring GI dysfunction and autism have unique features that will help us predict what treatments will be best for them."

SOURCE: University of Southern California

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