Jonathan L. Sebat, Ph.D., recipient of a 2010 NARSAD Independent Investigator Grant from the Brain & Behavior Research Foundation, and his international team, discovered some clusters of genes associated with autism that are more likely to mutate more frequently than the average gene. These “mutation hotspots” elevate the risk for developing autism spectrum disorders (ASD).
Dr. Sebat is Professor of Psychiatry and Cellular and Molecular Medicine and Chief, Beyster Center for Molecular Genomic of Neuropsychiatric Diseases at University of California, San Diego, School of Medicine and is principal investigator of the new study published on December 20 in the journal Cell.
Seeking to better understand what happens in the DNA associated with susceptibility to ASD, he and his team compared the whole genomes of pairs of identical twin children with the disorder and their parents. “This is truly the first chance anyone has had to explore the landscape of mutability in humans because an unbiased look at patterns of mutation in the genome was impossible before the development of high-throughput sequencing technologies,” commented Dr. Sebat.
"Some disease-related genes are gluttons for punishment," says Sebat. "Despite the fact that these genes are important for normal human development, they appear to be getting hammered with mutations.” The new findings further the possibilities for early diagnosis and intervention in ASD and may point toward the development of future preventative measures.