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Gene mutations linked to autism

By | April 5, 2012, 1:37 PM PDT

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

About Audrey Quinn

Audrey Quinn is a contributing editor for SmartPlanet.

Audrey Quinn

Audrey Quinn
Contributing Editor

Audrey Quinn is a multimedia science journalist based in Brooklyn, New York. She has corresponded for PRI's The World, Radiolab, Deutsche Welle's Living Planet, and a number of NPR affiliate stations. She also produces and hosts a podcast for the Mind Science Foundation. Previously, she performed neuroscience research at the University of Washington Autism Center and the Seattle VA Hospital.

Follow her on Twitter.

Audrey Quinn

Audrey Quinn

Audrey does not have financial holdings that would influence how or what she covers.

She writes for SmartPlanet and is not an employee of CBS.

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de-evolution
although it might be a cruel thing to say, perhaps there should be a new theory for scientists regarding de-evolution.

as we all know, stupidity can be passed down from the parent(s) to the children.

however, are such inflictions natural or a man made?

regardless, if our real world was a natural one, the survival rate for these kids with these would be minimal.
Posted by databaseben
6th Apr 2012
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Interesting perspective.
Improved health care is anti-evolution.

An accurate if not distubing observation.
Posted by Hates Idiots
6th Apr 2012
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Aspergers Syndrome
It's interesting to note that I was 47yrs old when my daughter was born and recently she's been diagnosed with having Aspergers Syndrome.
As quoted above -Their findings also suggested that the risk of ASD-linked de novo mutations increases with the age of the parents, especially the father.
All I want is for my daughter to have a good life.
Posted by kahuna4
10th Jun
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