Rare gene mutations linked to autism - Health & Fitness - The ...

BENEDICT CAREY; The New York Times ? Published April 05, 2012 Modified April 05, 2012

Three teams of scientists working independently to understand the biology of autism have for the first time homed in on several gene mutations that they agree sharply increase the chances that a child will develop the disorder, and have found further evidence that the risk increases with the age of the parents, particularly the father.

The gene mutations are extremely rare and together account for a tiny fraction of autism cases, suggesting that the search for therapies will be a long one, and that what is loosely known as autism may represent a broad category of related but biologically distinct conditions. There are likely hundreds, perhaps thousands, of rare mutations that could disrupt brain development enough to result in social and developmental delays.

But experts said that the overlapping results ? reported in three papers posted online Wednesday in the journal Nature ? give scientists working on the genetics of autism something they have not had: a clear strategy for building a real understanding of the disease?s biological basis.

Biologists have been groping in vain for a reliable, verifiable foothold from which to investigate the underlying genetics of so-called autism spectrum disorders, including Asperger?s syndrome and related social difficulties that are being diagnosed at alarmingly high rates ? on average, in one of 88 children, according to a government estimate released last week.

Previous studies have produced a scattering of gene findings but little consensus or confidence in how to proceed. The new work provides a measure of both, as well as strong backing for earlier studies linking autism to the age of new fathers.

?These studies aren?t so much a breakthrough, because we knew this was coming,? said Jonathan Sebat, a geneticist at the University of California, San Diego.

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