March 22, 2002

Looking for genes — Researchers continue the search for the cause of autism

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Looking for genes — Researchers continue the search for the cause of autism

While researchers and clinicians at the Vanderbilt Bill Wilkerson Center for Otolaryngology and Communication Sciences interact daily with children who have autism, influencing their worlds of language development, Vanderbilt bench scientists study genes and chromosomes, trying to influence the future of the disorder.

Jonathan Haines, Ph.D., and James Sutcliffe, Ph.D., professor and assistant professor respectively of Molecular Physiology and Biophysics, are part of the Autism Genetics Cooperative, a collaboration of half a dozen research groups around the world trying to identify the gene or genes responsible for autism. Haines and Sutcliffe are working together with principal investigator Dr. Susan Folstein at the New England Medical Center, who started a linkage study in 1996, looking at families with multiple incidences of autism diagnoses.

Sutcliffe also has his own project, focusing on a segment of chromosome 15, “15q11q-13.” In a small fraction of families with autism—about three percent—the genes in this region are duplicated, and are therefore overexpressed. “The big question is, does this region have a role in families with autism but no chromosomal abnormalities? We’re getting data to support that,” Sutcliffe says.

In the vast majority of families, those without duplication of 15q11q-13, the same genes have been tied to stereotypical behaviors (such as repetitive body movements) and resistance to change, the scientist says.

Sutcliffe hopes to better understand the role of the genes in the region using mice designed to overexpress specific 15q11q-13 genes. With a clearer understanding of the region’s role, Sutcliffe, Haines and others narrow the search for the autism genes and better treatment, or perhaps even ways to prevent it.