Scientists identify gene mutation in autism

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http://news.yahoo.com/s/nm/20061217/hl_ ... _autism_dc

Scientists identify gene mutation in autism

Sun Dec 17, 1:05 PM ET

PARIS (Reuters) - French scientists have identified genetic mutations in a small number of children with autism which could provide insight into the biological basis of the disorder.

They sequenced a gene called SHANK3 in more than 200 people with autism spectrum disorders (ASD), which includes autism, and found mutations in the gene in members of three families.

ASD covers a range of problems that affect communication, social interaction, verbal skills and behavior.

"These mutations concern only a small number of individuals, but they shed light on one gene ... that is involved in autism spectrum disorders," Thomas Bourgeron, of the Pasteur Institute in Paris, said in a report in the journal Nature Genetics.

ASD, which affect six out of 1,000 children, range from mild to severe forms. The disorders are caused by chromosomal rearrangements in 3 to 6 percent of cases.

In people with cognitive deficits and with autistic behavior a part of their chromosome 22 is often affected. That region contains the SHANK3 gene.

In all three families identified in the study, the researchers found they had various types of mutations in the gene. Two brothers in one family had small deletions, while another child in a different family had significant deletions.

A girl with a deletion of SHANK 3 in the third family suffered from autism while her brother, who had an additional copy of the gene, had a mild form of autism called Asperger syndrome.

The cause of autism is unknown. It usually develops before the age of 30 months. A minority of autistic children, who are known as autistic savants, show remarkable artistic, musical or mathematical skills.

The protein encoded by SHANK3 interacts with other proteins called neuroligins, which have a role in giving impulses to the brain, spinal column and nerves.

I only read what en just posted, and let me just say...

SO THAT'S WHY!! !! !! !

Now lets just hope it won't become a case of the Downs in concern to abortion, ugh.

Wait a sec, couldn't some maniacal Aspie use gene transplantation and stick it into others to MAKE them on the Spectrum?? Or the other way round?

*starts fighting CIA Agents trying to force the NT gene into my brain*

oh come on people.

I am the poster child for the NT.

does any one know how to find a more indepth article on this study? I googled it and all I got was the same news story over and over.
I am undecided if this study has any real meaning to the comunity as a whole.

They could just ship us to another place (aka concentration camps) and then they'll try experiments on us and then....yeah, something will happen! jk/lol Anyways, I think that they just have loads of theories that point to facts that are just a little more concrete than before. I mean, autism is a mystery, and figuring even small parts of the genetic or biological reasons behind autism has been a feat. They probably won't be coming out with the entire reason or breaking it down to a few different concrete reasons as to why autism is caused for at least a few years. But, as all things, you never know when they'll come out with the conclusion; hopefully people will know what they can be doing if they do decide to abort because a kid could be autistic.

I've always known it was a genetic mutation.

I think they use the word syndrome for genetic mutations. (correct me if i'm wrong)

http://www.msnbc.msn.com/id/7899821/page/2/

"Fewer geniuses?
There are many in the autism and Asperger’s community, like the newly formed Aspies for Freedom, who worry that the minute a genetic test appears, it will spell the end for a lot of future geniuses, like Gates".

F*** the non-genius Aspies then, apparently.

Sorry en_una_isla, that was hardly a reasoned argument I put forward there.

I do understand why AS groups present Bill Gates, Einstein etc as shining examples of people on the Spectrum, as they are up against the huge might of the collective which says 'everyone should be normal'. They need all the ammunition they can use, and I don't blame them at all for using it. I have a deep distrust for what can happen when politicians and scientists get together.
I just wonder what if there hadn't been a Bill Gates or an Einstein, or any of the other successful people on the spectrum. Would that degrade the general assumption about the entitlement to life for people with AS.

That's what I should have said.