Risk of Autism doubled with Single Gene Mutation

Autism :: Risk of Autism doubled with Single Gene Mutation

A child?s susceptibility to autism is increased with a single gene mutation according to research conducted by, a Vanderbilt-led research team. This discovery has far-reaching implications because this gene, a variant form of a gene called MET, is not just specifically a brain gene but rather a gene which has its effect on multiple systems in the body such as immune function and gut repair.

Therefore researchers have concluded that autism which is complex set of behaviors and mental disabilities may not solely a problem with brain development but rather may also be linked to subtle developmental problems throughout the body.

Pat Levitt, PhD, of the Vanderbilt Kennedy Center for Research on Human Development took part in the study which appears in the early online edition of the Proceedings of the National Academy of Sciences.

Levitt and colleagues suggest, "We hypothesize that the common, functionally disruptive [MET gene variant] can, together with other vulnerability genes and [genetic] and environmental factors, precipitate the onset of autism." According to Levitt and his colleagues the MET gene encodes an important enzyme called the MET receptor which sends out signals important for brain growth, brain maturation, immune function, and gut repair.

Most parents of autistic children report that their kids have digestive problems and differing immune responses. This has never been clearly linked directly or indirectly to their autism.

Matthew W. State, MD, PhD, director of the neurogenetics program at Yale University. State's in an accompanying editorial said that linking the MET gene to autism opens the door to exciting new research.

State writes, "The possibility that a MET variant might lead to immune dysfunction and gastrointestinal disturbance along with autism-spectrum disorders is an important question to pursue and one that will likely lead to some debate."

Thimerosol, theory which linked autism to thimerosol a form of mercury used as a vaccine preservative was rejected by an Institute of Medicine panel of experts. Now the MET gene may reopen investigation into the link between autism and other developmental problems.

State writes, "The very important question of whether and how gut disturbance, regression, and immunological issues may be related has been, in part, obscured by this [thimerosol] controversy. Hopefully, the present study will lead to additional rigorous investigations of these questions without fueling unnecessary concern regarding MMR."