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UMMS researchers identify epigenetic signatures of autism
Date:11/7/2011

WORCESTER, Mass. Scientists at the University of Massachusetts Medical School are the first to map epigenetic changes in neurons from the brains of individuals with autism, providing empirical evidence that epigenetic alterationschanges in gene expression caused by mechanisms other than changes in the underlying DNA sequencemay play an important role in the disease.

Analysis of these variations revealed hundreds of genetic sites that overlap with many of the genetic regions known to confer risk for Autism Spectrum Disorders. The study was published in Online First by the Archives of General Psychiatry.

Autism spectrum disorders are a group of complex biological illnesses with a variety of origins. People with a disorder on the autism spectrum often struggle with social interactions and communication. Many suffer from delayed language skills, as well as restricted interests and repetitive behavior. It's estimated that only 10 percent of cases are a result of genetic mutations. The cause of the remaining 90 percent of cases is unknown.

"We know that autism is a biological disorder," said Schahram Akbarian, MD, PhD, director of the Irving S. and Betty Brudnick Neuropsychiatric Research Institute and professor of psychiatry at the University of Massachusetts Medical School. "But very little is known about the genetic and molecular underpinnings associated with the disorder. It's been hypothesized that an epigenetic model of autism could potentially explain why genetic screening strategies for the disorder have been so difficult and frustrating. Our study is the first clear evidence gained exclusively from nerve cells pointing to a link between epigenetic changes and known genetic risk sites for autism."

In order to see if epigenetic changes were occurring in individuals with autism, Akbarian and colleagues developed a novel method for extracting chromatin the packaging material that compresses DNA into a smaller volume
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Contact: Jim Fessenden
james.fessenden@umassmed.edu
508-856-2000
University of Massachusetts Medical School
Source:Eurekalert

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