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
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)

(Newser) – 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.
 

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