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Study reveals how common gene mutation affects kids with autism spectrum disorders
Date:9/14/2012

Over the past decade, researchers have made great strides in identifying genes that lead to an increased risk of autism spectrum disorders (ASD), which result in a continuum of social deficits, communication difficulties and cognitive delays. But it's still critical to determine how exactly these genetic risk factors impact the brain's structure and function so that better treatments and interventions can be developed.

This led researchers at UCLA to look more closely at one particular culprit that's known to cause a susceptibility to ASD a genetic variant, or mutation, in the MET receptor tyrosine kinase gene, commonly known simply as MET.

And what they found was striking: For the first time, the researchers showed that the so-called "C" variant, which reduces MET protein expression, specifically impacts the network of connections among different areas of the brain involved in social behavior, including recognizing emotions shown on people's faces. While this gene variation is commonly found in the brains of both health individuals and those with ASD, the study showed that the gene has a bigger impact on brain connectivity in children with ASD.

The findings appear in the current online edition of the journal Neuron.

Senior author Mirella Dapretto, a professor of psychiatry at the Semel Institute of Neuroscience and Human Behavior at UCLA; first author Jeff Rudie, a graduate student in Dapretto's lab; and Pat Levitt, the Provost Professor of Neuroscience, Psychiatry, Psychology and Pharmacy at the University of Southern California, who discovered MET's association with ASD, used three different types of magnetic resonance imaging (MRI) to determine how the MET risk factor impacts brain structure and function.

Their findings provide new insight into understanding ASD heterogeneity the considerable individual differences in how ASD symptoms present which has challenged the field in developing more
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Contact: Mark Wheeler
mwheeler@mednet.ucla.edu
310-794-2265
University of California - Los Angeles
Source:Eurekalert

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