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New Study Shows Gene Mutations In Children Increases Chances Of Autism

Fri, April 6, 2012 2:19pm EDT by 1 Comment

For the first time, scientists found several gene mutations in kids that are linked to autism. Is this a big break in understanding cases?

The gene mutations are “extremely rare and account for a tiny fraction of autism cases in these studies, only a handful of children,” experts say, according to The New York Times. The new findings give scientists a new clue, so now they are able to widen their understanding of the disease. “This is really the tip of the tip of the iceberg,” says Dr. Evan E. Eichlera, a professor of genome sciences at the University of Washington in Seattle. “But I think the important thing is all of us agree on where to start.”       

“An intensified search for rare mutations could turn up enough of these to account for 15 percent to 20 percent of all autism cases, and allow researchers a chance to see patterns and some possible mechanisms to explain what goes awry,” some experts add.

The known cause for the rare mutations are unknown or the levels in the population, but it is great progess, according to Aravinda Chakravarti of the Institute of Genetic Medicine at the Johns Hopkins University Medical School.

A team of scientists looked for a certain mutation in 200 parents and siblings. They were given an autism diagnosis and there were no signs of the disorder. However, they did find two unrelated autistic children that had the mutation in the same gene!

“That is like throwing a dart at a dart board with 21,000 spots and hitting the same one twice,” says leader of the team, Dr. Matthew W. State, a professor of genetics and child psychiatry at Yale. “The chances that this gene is related to autism risk is something like 99.9999 percent.”

— Giovanna Pagliarulo

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