Autism Vox

Gene Mutation and the Biology of Autism

by Kristina Chew, PhD on October 17th, 2006

A single mutation in MET, a gene involved brain development, immune system regulation and repair of the gastrointestinal system, has been identified as raising the likelihood for a child to be diagnosed with autism. 743 families in which 1,200 family members were on the autism spectrum participated in a study under Dr. Pat Levitt and colleagues at Vanderbilt University in Nashville, TN, as reported in the October 16th Scientific American.

“This is a vulnerability gene,” Levitt said in a telephone interview. “There are not genes that actually cause autism. It raises the risk.”

People with two copies of the mutated gene have 2 to 2.5 times the normal risk of autism and people with one mutated copy have 1.7 times the risk, he said.

Dr. Levitt further noted the the mutation changes gene expression—-not, that is, how the gene functions, but how active it is. His findings are published in the Proceedings of the National Academy of Sciences.

The MET protein is also most widely known for promoting metastasis, “the spread of a variety of cancers”; recent studies have also linked it to the development of the cerebral cortex and cerebellum, “parts of the brain that can be abnormal in people with autism” (see the October 16th CBCnews (Canada)). What I find interesting about Dr. Levitt’s research is that MET is involved not only in brain development, but also in the functioning of the immune system and of the gastrointestinal system. As Dr. Andy Shih, director of research at the National Alliance for Autism Research noted (as quoted in CBCnews (Canada), “…. what distinguishes this particular paper is that it involves the biology associated with this condition.”

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POSTED IN: Diagnosis, Genetics, Neuroscience, Science