Autism study validates importance of spontaneous causal mutations and sheds new light on gender skew

[HuckleB]

http://www.cshl.edu/Article-Wigler/autism-study-validates-importance-of-spontaneous-causal-mutations-and-sheds-new-light-on-gender-skew

"A clinically extensive and mathematically powerful study of 1000 families with one autistic child and one unaffected sibling has validated a controversial theory of autism’s complex genetic causation. The study for the first time estimates the minimum number of locations in the human genome -- 250 to 300 -- where gene copy number variation (CNV) can give rise to autism spectrum disorder (ASD). It also sheds new light on the long observed but little understood “gender bias” of autism, an illness that typically manifests by age 3 and affects about four times more boys than girls.

The study, along with an accompanying paper exploring the possible brain and neuronal pathologies to which the observed CNVs and other genetic anomalies may give rise, appears June 9 in the journal Neuron. The work was led by Professor Michael Wigler of Cold Spring Harbor Laboratory (CHSL), a pioneer in the analysis of genomes and a developer of key technologies that have made such analysis possible, in collaboration with Dennis Vitkup of Columbia University; Dan Levy, Michael Ronemus, Ivan Iossifov and Sarah Gilman of CSHL; and others.

“The causes of autism when fully fleshed out are likely to be very diverse,” Wigler says, “some of which may be treatable much more readily than others. However, the diversity of causes implies that an effective future treatment for one form of ASD may be specific only for a narrow subset of those affected.”

Four years ago, Wigler and colleagues began to publish findings about the genetics of autism that surprised many experts in the field. Among other things, they noted the prevalence of “de novo” genetic mutations in affected children. These are mutations that did not appear in either parent and hence must have arisen spontaneously. In 2008, Wigler proposed that such cases, characterized by changes in gene copy number -- duplicated or deleted genome segments that leave an individual with extra or missing copies of one or more genes -- likely account for at least half of ASD cases.

..."


FYI...

[elleng]

1. And this:

http://www.democraticunderground.com/discuss/duboard.php?az=view_all&address=222x106445

[Ozymanithrax]

2. It seems evidence indicates that childhood innocualtions are not responsible...

About time.

Very good article.

[HuckleB]

3. It does seem...

[laconicsax]

4. That's no way to shift the goalposts!

If it isn't childhood vaccinations, it must be the mother's childhood vaccinations or the ultrasound technician's childhood vaccinations!

:rofl:

[HuckleB]

5. Come on! It's the thermometer that broke in great grandmother's bathroom in 1933.

Sheesh.

[laconicsax]

7. Call her Mercuric Eve.

Or maybe Hydrargyric Eve--sounds more sinister.

[Ozymanithrax]

8. It is eminations from Mars that cause it..

Of course.

[Odin2005]

6. K&R

[SheilaT]

9. I have two children, both grown. One is

mildly autistic (Asperger's), the other is as opposite as he can be and still be "normal".

When the older one, the one who is autistic, was in pre-school, and long before we knew his difference was something that could be diagnosed, we did notice that he was quite content to play by himself. One of his pre-school teachers thought it was a problem, but we didn't, as we (his parents) are both somewhat loners ourselves.

It may be that he simply got both sets of "loner genes", for lack of a better word, and the younger one got both sets of "being social" genes. Who knows? And I don't think it's all that important.

[laconicsax]

10. You could have described me and laconicsib.

Laconicsib is very extroverted and always has been. I'm very introverted and always have been. Same with laconicspouse and laconicsib-in-law. Genetics can play an interesting role that isn't always predictable.

[SheilaT]

12. Yep. Even identical twins

who share the exact same DNA and presumably the same environment are often considerably different from each other. And don't even get started on families with more than two children. I'm one of six, and every time I think about it I'm astonished at how different we all are well into adulthood.

[HuckleB]

11. It's interesting to note that this study has offended some, to the point where they unrec it.

I yi yi.

[xchrom]

13. Kick