SHANK3 gene anomalies in 5 autistic children
December 18, 2006 by Kristina Chew, PhD
Filed under Health
The SHANK3 gene is the latest gene to be identified as linked to autism; this gene produces proteins necessary to construct synapses in the brain. Five autistic children from three families were found to have anomalies in this gene in a study conducted by Thomas Bourgeron of the Department of Neuroscience at the Institut Pasteur. Reports Physorg.com:
In 2003, Bourgeron’s team identified anomalies on SHANK3, which produces the proteins necessary to construct synapses, the junctions between the brain’s neural pathways.
They discovered significant “deletions” to various degrees in the gene. One participant, who was autistic but had learned to talk, was found to have a “duplicate” of the gene.
The research was conducted with Paris’ psychiatric services institute Inserm, and the University of Gothenberg in Sweden.
Bougeron notes that “‘This gene, named SHANK3, does not explain all forms of autism’”; SHANK3 may explain some of the communication difficulties in autistic persons. This research study was published online on December 17th in Nature Genetics.
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