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Researchers Identify Gene Variant Associated with Both Autism and Gastrointestinal Dysfunction

March 02, 2009

Several studies have reported that children with autism spectrum disorders (ASD) often have gastrointestinal (GI) disturbance. In the March issue of Pediatrics, researchers from Vanderbilt University, MassGeneral Hospital for Children (MGHfC) and the University of Southern California were the first to report that a gene involved in the development of parts of the brain responsible for social behavior and communication, also is involved in the development and repair of the GI system. The researchers used medical information and DNA samples collected from families participating in the Autism Genetic Resource Exchange (AGRE) to carry out their study. AGRE, a science program of Autism Speaks, represents the largest private collection of genetic and clinical information for families with multiply-affected children with ASD.

"These findings are very important because they suggest that the MET gene may help identify a subgroup of individuals with ASD that also suffer from GI problems," commented Dr. Geri Dawson, Autism Speaks' Chief Science Officer. "We know that autism is not one disease, but rather many different diseases arising from different causes. This study sheds light on one possible cause for both autism and GI symptoms."

Both MGHfC and Vanderbilt University are active sites in Autism Speaks' Autism Treatment Network (ATN). The ATN is a consortium of 15 hospitals and academic medical centers dedicated to developing better ways to identify, manage and treat the physical health conditions of children with ASD. "It is critical for basic scientists to work closely with the doctors who are evaluating children in their clinics," said Dr. Clara Lajonchere, Vice President of Clinical Programs for Autism Speaks. "We're realizing how powerful genetics can be in helping us better understand the medical and clinical issues facing our kids today."