Autism News: Shank3 Mutation May Hold Clues to Autism

Autism News Update:

Mutation in Shank3 Gene May Result in Poor Brain Circuitry
Poor Synapse Function in Autism May Be Caused by Mutation in Shank3

A recent article published on May 20th, 2011 by BBC News reports key findings by scientists at MIT and Duke University.  The scientists created mice with a mutation in the Shank3 gene which encodes a protein found in neuron synapses.  This mutation led to behavior in the mice that mimicked certain autistic behaviors.  The mice in the study showed both repetitive behaviors and social difficulties.

Researchers believe that the Shank3 gene may encode a protein that plays a key role in the development of the circuitry between different parts of the brain.  Mutations in the Shank3 gene may result in poor brain connections.

If mutations in Shank3 do play a role in the development of autism then that knowledge may be key in developing targeted treatments.  However, it should be noted that only a small portion of individuals with autism likely have a mutation in the Shank3 gene.

Read the BBC News Article

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