Gene mutations linked to autism

Yesterday afternoon brought us news of a possibly groundbreaking advancement in autism spectrum disorder (ASD) research. For the first time, researchers have linked a mutation in specific genes to an increased risk for ASD. These findings come from three separate teams reporting in Nature.

First, the disclaimers: No, scientists have not discovered theASD gene. No, none of the gene mutations in question have been proven to cause ASD. And, these gene mutations we’re talking about, they’re super rare.

But, this is the first time scientists have been able to pinpoint certain gene mutations as possible contributors to ASD.

The researchers looked at de novo mutations in the DNA of children with ASD whose parents showed no sign of the disorder. De novo mutations in genes happen spontaneously prior to birth.

They concluded that a mutation on a particular gene was linked to autism if multiple children with ASD shared that mutation location, and none of the kids without ASD had it.

Read all about it at the SmartPlanet website here: