Friday, June 24, 2011

New reports on autism and genetic mutations

So, this new study just came out, and it fits dead-on with our experience.

Autism linked to hundreds of spontaneous genetic mutations

Quote from the article:
In 2007, Michael Wigler, a geneticist at Cold Spring Harbor Laboratory in New York, and his colleagues showed that spontaneous mutations — those that arise for the first time in an individual, rather than being inherited — are important in about half of all cases of autism4 (see New mutations implicated in half of autism cases). A follow-up study5 in 2010, of 996 autistic individuals, found that people with autism carry a heavy load of rare duplications or deletions in regions of the genome that contain genes.

Of course, this doesn't answer the big questions, like why are so many more kids getting autism now than there used to be?  And, if there's a link with genetic mutations, what causes those mutations?  I'd sure love to know what happened during my pregnancy that cause a group of cells to break off and do their own thing.

2 comments:

Stephanie said...

I'm so glad you're blogging here still. Hope all is well (as well as well gets!).
Stephanie/oh!s

Ted said...

Remember that, depending on who you ask, somewhere around 25% of pregnancies end in miscarriage, most of them before the mother even knows she's pregnant. Most of these are thought to be due to genetic abnormality. With that fact in mind, it's the relative scarcity of autism that's surprising.