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richie
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10 Jun 2011, 9:09 am

Autism's Tangled Genetics Full of Rare and Varied Mutations

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Several new studies highlight the complexity of autism's genetic roots, revealing why it strikes boys more than girls and offering clues for possible new treatments....
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.......


A complex effect often requires a complex cause.....


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DeaconBlues
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10 Jun 2011, 9:41 am

Oddly, however, it turns out (in at least one published study) that most, if not all, of the genetic variations seen impact similar aspects of neural interconnectivity.

I also found it intriguing that for one particular gene, 17p11.23, extra copies led to autism, while deletions led to autism's near-opposite, Williams Syndrome.


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ocdgirl123
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10 Jun 2011, 9:49 am

I a bit tired of all these "what causes autism?" articles. I don't really care what causes it.



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10 Jun 2011, 9:59 am

Mutant and proud. - Line from the new X men movie.



OJani
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10 Jun 2011, 10:34 am

There is not so much intriguing to me, except the ever-suspending promise of a cure or "efficient" treatment, I mean, it seems we have plenty of time till we should start worrying about such things.


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wavefreak58
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10 Jun 2011, 10:57 am

I find it interesting in that it multiplies the potential side effects of a cure. If there was one mutation that caused autism, a real cure is much more likely. But if it is a large number genetic variations interacting with each other AND the environment, we are looking at non-linear relationships and an increasingly difficult predictive task. This complexity creates some intriguing questions about how genius, savantism, and debilitating autism might be inextricably linked. Perhaps the price we pay for true genius is a certain amount of 'genius gone wrong'. Sort of like the sensitivity of integrated circuits to contamination during manufacture. Clean rooms are extraordinarily sterile environments and yet there are still stray particles that get into the process and bollocks up the circuits. But when everything goes right, we get computer chips that can do amazing things. Unfortunately, there is no 'genetic clean room' where we can lower the failure rate of the combinations of genes that produce genius and so we get increasing rates of autism since intellect is increasingly valued in this culture, increasing 'attempts' via reproduction among like individuals at creating smart people. This may explain the apparent higher incidence of autism in Silicon Valley and other places where there is a concentration of really smart people.

Caveat: all of the above is entirely speculative. I am NOT stating something I believe to be fact or in anyway supported by science. Just intriguing.


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sgrannel
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10 Jun 2011, 1:05 pm

A high functioning mutant can sometimes pass for an alien!

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Todesking
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10 Jun 2011, 1:21 pm

ocdgirl123 wrote:
I a bit tired of all these "what causes autism?" articles. I don't really care what causes it.


Even if they could fix it some of us are too old to change.


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tomboy4good
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10 Jun 2011, 1:43 pm

Interesting concept! I don't see anyone "fixing" autism in my lifetime. Besides, I thought the human race was supposed to embrace diversity, not stamp it out. Although it sure seems like a number of people want to cure those on the spectrum. There's an organization called TACA (Talk About Curing Autism). I find it very offensive.

I get really frustrated living among folks who have expectations that I can't live up to. If I could fix some of my quirks to mesh with NTs better, I certainly would. I'm not adverse to that. But for them to want to cure me is just as wrong as if I wanted to turn all NTs into people on the spectrum. Everyone has their quirks, but why are some of us considered defective unless we do things the same way they do? I am reminded of Nazi Germany, where one standard was superior to all else. But wanting us to be all the same, is akin to genetic suicide since it makes us more vulnerable to disease. Cheetahs are endangered because they have no genetic diversity...it's as though they are clones. Chances are their lack of diversity will eventually cause cheetahs to become extinct, unless someone can bring about some fresh genes to their bloodlines. I don't want to see the human race end up the same way.


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Aspie Score: 173/200, NT score 31/200: very likely an Aspie
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DX: Anxiety plus ADHD/Aspergers: inconclusive