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

so it can fit inside a cell's nucleus from the nuclei of postmortem nerve cells. Using tissue samples obtained through the Autism Tissue Program from 16 individuals diagnosed with an autism spectrum disorder, Akbarian and colleagues used deep sequencing technology to compare these tissue samples with 16 control samples for changes in histone methylation, a small protein that attaches to DNA and controls gene expression and activity.

After analyzing the sequenced DNA data, Zhiping Weng, PhD, director of the Program in Bioinformatics and Integrative Biology and professor of biochemistry & molecular pharmacology at UMass Medical School, found hundreds of sites along the genome affected by an alteration in histone methylation in the brain tissue from the autistic individuals. However, less than 10 percent of the affected genes they observed were the result of a mutation to the DNA sequence.

"Neurons from subjects with autism show changes in chromatin structures at hundreds of loci genome-wide, revealing considerable overlap between genetic and epigenetic risk maps of developmental brain disorders," said Akbarian.

"Our understanding of psychiatric disorders, such as autism, is burdened by the fact that we often can't see the structural changes that lead to disease," said Akbarian. "It's only by studying these diseases on the molecular level that scientists can begin to get a handle on how they work and understand how to treat them."


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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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