Gastrointestinal troubles in autism linked to gene variant

Nashville, March 3: A recent study suggests that autism and its related gastrointestinal (GI) troubles can be attributed to a gene variant in the body.

Researchers from Vanderbilt University in Nashville believe that a typical gene variant can be linked to gastrointestinal troubles in autism patients. The study results help in identifying sub-type of autism at early stages.

Dr. Daniel B. Campbell, study author and a research assistant professor of pharmacology at the university, said: "This association was not present in another group who has autism and don't have gastrointestinal problems. We think we're subdividing types of autism in a way that's finally useful."

The findings of the study are published in the current issue of Pediatrics.

Usually, the term "autism spectrum disorders" (ASD) is used to explain the array of heterogeneous disorders associated with autism. Researchers have identified the association of the gene variant in focus with ASD through a range of studies.

The gene, identified as the MET C gene, is concerned with the functioning of GI system and brain development and almost 30 to 70 percent of children with autism suffer from GI troubles, according to the study.

Campbell explained: "It's involved in how well it repairs itself, how well it responds to insults, taking in foods that upset the stomach. We wondered if this MET gene variant that we'd identified two years ago might be involved specifically in a subset of these patients who have both autism and a GI problem."

The study involved 918 autism-affected individuals from 214 families and examined their medical history and genetic profiles. The MET C gene was found to be associated with ASD and GI system in 118 families where at least one child had both conditions. Other 96 families did not have a child with both the conditions and no link was found between the disorder and the gene.

Keith Young, from the department of psychiatry and behavioral science at Texas A&M Health Science Center College of Medicine, said: "It looks like this particular genetic variation affects cellular processes in the brain during development and in the gut for your whole life."

Keith Young is also the core leader of neuro-imaging and genetics at VA Center of Excellence for Research on Returning War Veterans, which is a part of the Central Texas Veterans Health Care System. He has been named chairperson of the Tissue Advisory Board for Autism Speaks which works towards creating autism awareness and funds researches.

"What we predict is going to happen is that other genesdefine that provide proteins for this pathway might be affected in those families, so they're not going to show up with a gut problem, but they can still get autism. The long-term importance of this is it's providing information about this cellular pathway where we can start looking to find out what it has to do with development. This gene is found more in social parts of the brain," added Young.

Campbell quoted, "It's important for the public to know that GI problems are present in autism. And in this particular set of individuals who have problems with communication, it's not always that obvious that they have GI problems. Often they can't say, 'My tummy hurts.' They have to find other ways to express that, and it's not always productive."

Researchers feel that the study findings may not really bring in change in the lives of people with autism but it can certainly call for developing new medications.