Gene Mutation Increases Risk of Autism

Scientists believe they may have discovered a specific gene mutation that increases the risk of a child developing autism. Three independent teams of scientists -- from Yale, Harvard and the University of Washington in Seattle -- are in agreement, for the first time, that there is a specific gene mutation that increases the risk of a child developing autism.

The gene mutation the researchers have pinpointed, called de novo, only makes up a minuscule percentage of autism cases, but the discovery is progress nonetheless. The decades-long debate about biological versus environmental triggers was finally given some clarity, even if only for this small group of children. From these findings, the scientists have been able to establish a strategic plan for how to further increase their knowledge about the biological basis of autism, a disease that affects as many as one in every 150 children in Canada, according to Autism Speaks

"These studies aren't so much a breakthrough, because we knew this was coming," Jonathan Sebat, a professor of psychiatry and cellular and molecular medicine at the University of California, San Diego, tells the New York Times. "But I'd say it's a turning point. We now have a reliable way forward, and I think it's fair to expect that we will find 20, 30, maybe more such mutations in the next year or two."

Such discoveries could eventually account for 15 or 20 per cent of all instances of autism, and by comparing these different mutations, researchers are hoping to identify patterns and form some further conclusions. According to Benjamin Neale, an assistant in genetics at Massachusetts General Hospital, the challenge will be figuring out which de novo mutations might increase risk for autism. Most people have at least one of these gene mutations, he says.

"We want to know what genetic risk factors predispose toward autism so we can improve prediction,"

Another commonality between the three research teams was their hypotheses that the older the parent, the higher the risk of de novo mutations in their children. This was especially the case in fathers 35 and older. Older male sperm is subject to small, perhaps random glitches that in rare cases effect brain development.

The researchers are hopeful that this initial discovery is just the beginning of a much larger breakthrough.