MET Gene Variant Links Autism and GI Disorders
Researchers at the University of Southern California and Vanderbilt University have identified a specific gene variant that links autism with gastrointestinal conditions. Their study is published in the March issue of the journal Pediatrics.
Autism is a developmental disorder characterized by deficits in communication abilities, social behavior disruption and inflexible behavior. Many children with autism have been noted to have GI problems. This led the researchers to hypothesize if the ones with the GI problems represented a subset of autism.
The researches chose to look at a functional variant in the promoter of the gene encoding the MET receptor tyrosine kinase. It is known to be associated with autism spectrum disorder. MET is a pleiotropic receptor that functions in both brain development and gastrointestinal repair. In the brain, the MET gene is expressed in developing circuits that are involved in social behavior and communication. Disturbances in MET expression result in alterations in how these critical circuits develop and mature.
Researches studied the medical records of 918 individuals from 214 Autism Genetics Resource Exchange families. These records included a complete medical history and gastrointestinal condition report. They found that a variant in the MET gene was associated with autism specifically in those families where an individual had both autism and a gastrointestinal condition.
Levitt states, “Gastrointestinal disorders don’t cause autism. Autism is a disorder of brain development.”
The study helps provide a biologically plausible explanation for why autism and GI disorders are often seen together.
The study was funded by the Simons Foundation, the Nancy Lurie Marks Foundation, the Dan Marino Foundation’s Marino Autism Research Institute, the National Institute of Mental Health and the National Institute of Child Health and Human Development.
University of Southern California News
Distinct Genetic Risk Based on Association of MET in Families With Co-occurring Autism and Gastrointestinal Conditions; Pediatrics, 10.1542/peds.2008-0819; Daniel B. Campbell, Timothy M. Buie, Harland Winter, Margaret Bauman, James S. Sutcliffe, James M. Perrin, Pat Levitt.