Autism Tied to Gene Mutations for First Time

'It's a turning point,' says one scientist
By Kate Seamons,  Newser Staff
Posted Apr 5, 2012 9:26 AM CDT
Autism Tied to Gene Mutations for First Time
Christopher Astacio reads with his daughter Cristina, 2, recently diagnosed with a mild form of autism, in her bedroom on Wednesday, March 28, 2012 in New York.   (AP Photo/Bebeto Matthews)

Big autism news: A number of gene mutations linked to the disease have been uncovered for the first time, announced a number of scientists in three papers published yesterday. The sobering detail: These particular mutations are super rare, and are responsible for only a very small number of autism cases. The encouraging detail: The discovery gives scientists a foothold from which they can start growing their knowledge of autism's biological roots. Though they've longed believed genetics are at play, there hasn't been agreement on how to proceed; this discovery changes that, reports the New York Times.

That's because it could fuel the search for more mutations. There are believed to be as many as a thousand tied to autism, each one incredibly rare. But collectively they could ultimately account for as many as 20% of all autism occurrences. One scientist not involved in the studies is reluctant to call the news a "breakthrough, because we knew this was coming. It’s a turning point." But he expects as many as 30 mutations will be discovered in the next year or so. Others express more caution: "We don’t know the cause of these rare mutations, or even their levels in the general population. I'm not saying it’s not worth it to follow up these findings, but I am saying it’s going to be a hard slog." Click for more on the specifics of the newly discovered mutations, which are more likely to come from the DNA of the father, particularly from dads over 35. (More autism stories.)

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