Autism's Tangled Genetics Full of Rare and Varied Mutations

[n2doc]

By Katherine Harmon | June 8, 2011 | 12

The underpinnings of autism are turning out to be even more varied than the disease's diverse manifestations. In four new studies and an analysis published June 8 researchers have added some major landmarks in the complex landscape of the disease, uncovering clues as to why the disease is so much more prevalent in male children and how such varied genetic mutations can lead to similar symptoms.

Large genetic studies have ruled out the idea that the malfunction of a universal gene or set of genes causes autism. And the new papers, which assessed the genomes of about 1,000 families that had only one autistic child, revealed that the genetic mutations that are likely responsible for the disorder are exceedingly rare—sometimes almost unique to an individual patient. Even some of the most common point of mutations were found in only about 1 percent of autistic children.

This finding means that the number of genes lurking behind autism spectrum disorder (ASD) is at least "in the hundreds," says Matthew State of Yale University's Program on Neurogenetics and co-author of one of the new studies. "That's a significant change from the '90s when it was five to 15." And getting a handle on such rare genetic mutations—even in the growing autistic population—is challenging.

Despite the rarity of these genetic code errors, researchers could detect some important patterns in the disparate data. One aberrant gene has already been linked to other social disorders. And by analyzing the role of these genes in neural development, one team of researchers suggests different genetic mutations might often disturb an entire common network.

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http://www.scientificamerican.com/article.cfm?id=autism-genetic-mutations

[Cronus Protagonist]

1. Maybe these kids are seeing some of the other dimensions that we cannot

There should be ten or eleven but we see only three... maybe they see some of the others? They certainly seem to be seeing something, from my layman's way of looking at autism.

[Odin2005]

2. Nonsense! Everyone knows that Teh Autism is caused by vaccines!!!

:sarcasm:

[SheilaT]

3. My son with Asperger's was different from

the day he was born. I just didn't figure out for more than 18 years that his differences were greater than the normal individualness of all humans.

We are all unique, wonderful human beings and we also can be grouped together in various ways. There's the sub-group of those good at math, another of those who can sing tunefully, another of those who can perform various physical feats, and so on. Autism, to me is just yet one more sub-group.

[K8-EEE]

4. Hey Sheila! From one "spectrum parent" to another

Your message made me smile and go hug my very special daughter. Thanks!

[Warpy]

8. MIT was Aspie Central

and I enjoyed them tremendously.

Some of us are fine with quirks.

[SheilaT]

9. Before I figure out he had Asperger's,

he went to National Science Bowl. Twice. I, of course, think he's the main reason his team made it both years, but that's another story entirely. Anyway, what was so interesting there was that so many of the kids were science nerds just like him, and every time we went looking for him we'd find him off somewhere talking with other kids. This was a boy who rarely had any friends at all until he started doing Science Bowl and Knowledge Bowl, and all of a sudden he was getting along immediately with kids from all over the country. They all had a lot in common, and I suspect that more than one was an Aspie. I do know that no one else on his S-B team either year was one. They were all "normal".

[Odin2005]

10. I wish I were at MIT!

:cry:

[saras]

5. When I see research on why ASD is valuable enough to preserve genetically, I'll take them seriously.

Until then, it sounds too much like genocide.

The truth is that we know little to jack shit about how the systems between genes and behavior work. We're about where chemistry was in 1700. And it's obvious in the Aspergers' end of the spectrum that some 'disorders' offer a net gain, i.e. the abilities gained outweigh the abilities lost.

I suspect, for example, that if you removed all the autism-related genes from a population, that you've also removed a substantial part of the mathematical ability, and a good chunk of linguistic and scientific ability as well.

Sometimes I suspect that Williams' Syndrome is also just one point on the extreme of a spectrum, and our society is riddled with relatively mild cases of it or related syndromes, that we don't bother to research. But that's just my opinion.

[laconicsax]

6. Wait...researching the root causes of ASD is genocide?

:wtf:

[Odin2005]

7. I think he was criticizing the notion that ASDs are something that needs "curing".