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Gene mutations linked to autism

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For the first time ever, scientists have identified specific gene mutations that increase one's risk to develop autism spectrum disorder.

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 the ASD 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.

So far, they've only identified a few apparently ASD-specific gene mutations. But know that they know how to find them, the researchers expect to find a lot more. Benedict Carey of The New York Times explains:

There are probably hundreds, perhaps more than a thousand, gene variations that could disrupt brain development enough to result in social delays. An intensified search for rare mutations could turn up enough of these to account for 15 percent to 20 percent of all autism cases, some experts say, and allow researchers a chance to see patterns and some possible mechanisms to explain what goes awry.

The researchers see these studies as a crucial first step to being able to understanding the genetic underpinnings of ASD, and to develop gene-specific therapies for the disorder.

Their findings also suggested that the risk of ASD-linked de novo mutations increases with the age of the parents, especially the father.

[via The New York TimesCNN, and USA Today]

Photo: Joseph Elsbernd/Flickr

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Audrey Quinn

Contributing Writer

Audrey Quinn is a Brooklyn-based multimedia journalist focused on health, tech and the economy. Her radio stories can be heard on Marketplace, Studio 360, PRI's The World, NPR's Latino USA, Deutsche Welle Radio and The Believer Magazine podcast. In addition to her work with CBS Interactive she produces multimedia science stories for online publications and is a teaching assistant at the Transom Story Workshop. Her investigative work has been awarded by the Fund for Investigative Journalism and The Nation Institute’s Investigative Fund. Follow her on Twitter. Disclosure