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Autism linked to hundreds of spontaneous genetic mutations
Nature News ^ | 9 June 2011 | Heidi Ledford

Posted on 06/09/2011 9:15:06 PM PDT by neverdem

Analysis suggests that girls are partially shielded from effects of the changes.

The most comprehensive search yet for spontaneous genetic mutations associated with autism spectrum disorders suggests that hundreds of regions in the genome may have a hand in causing such conditions.

Analyses reported in three papers published this week in Neuron1,2,3 dramatically expand the list of known genetic culprits. Two of the studies also shed light on a long-standing mystery: why are boys four times more likely to have autism than girls1,2? The researchers found that girls with autism tend to have many more mutated genes than boys with the disorder, suggesting that it generally takes a larger genomic change to cause autism in girls.

Autism is difficult to pin down. A wide range of symptoms, many involving difficulties in social interactions and communication, are united under the diagnoses of autism spectrum disorders. And although it is estimated that such conditions are more than 90% heritable, quests to find common mutations associated with them have not yet yielded any reproducible hits, says Stephen Scherer, a geneticist at the Hospital for Sick Children in Toronto, Canada, who was not involved in any of the studies.

"Autism is a heterogeneous disease, both clinically and genetically," he notes.

Spontaneity counts 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.

Now Wigler and his group,...

(Excerpt) Read more at nature.com ...


TOPICS: Culture/Society; News/Current Events; Testing
KEYWORDS: asd; autism; genetics; godsgravesglyphs
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1 posted on 06/09/2011 9:15:20 PM PDT by neverdem
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To: Incorrigible

Ping


2 posted on 06/09/2011 9:17:02 PM PDT by neverdem (Xin loi minh oi)
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To: neverdem

Interesting, thanks for the post.


3 posted on 06/09/2011 9:20:33 PM PDT by dog breath
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To: neverdem

Interesting! Thanks for posting!


4 posted on 06/09/2011 9:24:18 PM PDT by rangerwife (Proud wife of a Purple Heart Recipient)
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To: neverdem

Sounds like this might be at least partly an X-chromosome problem. Presumably, mutations outside the X then interact with those on the X. In girls, the X has a “backup” which would stay clean, requiring bigger problems in other areas to hit the damaged areas of the damaged X chromosome.


5 posted on 06/09/2011 9:44:18 PM PDT by Little Pig (Vi Veri Veniversum Vivus Vici.)
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To: neverdem

if these random mutations are the only or primary cause of autism, it does not make sense that the incidence of autism has increased so much in the last twenty-five years.

If something was causing a greater number of mutations, we would be seeing an increase in all kinds of birth defects and cancers.


6 posted on 06/09/2011 9:44:18 PM PDT by heartwood
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To: neverdem

Boys who suffer mercury poisoning do so at that same ratio because testosterone speeds up the neurological damage in boys brains. Girls are more protected from the mercury damage because of their hormones.

Very interesting....wonder why they never mention vaccinations and autism. I always really thought it weird, since Autism went up sharply when there was a sharp increase in the number of vaccines for young children even when their brain barrier is non-existent and toxins go straight to the brain. This can cause neurological problems....exactly like Autism....which mirrors Mercury poisoning.

Can’t tell the two symptoms apart from each other. The mannerisms are identical. Wonder why there is a blackout on the subject. No discussions whatsoever...Seems so odd in a “free” country.....

Hmmmm, maybe billions of dollars are paid to keep it quiet.....If I didn’t know any better I think I would believe all those “truthful” Lancet “science” magazines and all their “hockey stick” graphs. Yes, they were adamant about Global Warming, weren’t they. No politics and money here......like in Autism and vaccines. Certainly no billions tied up in there. And such a great way to mass sterilize everyone....system of mass vaccination makes a sinister plot so easy. Of course, there are no wealthy elites who are concerned about population numbers and eugenics is so unfashionable today—whoops...well maybe not in some quarters like PP and the white house.


7 posted on 06/09/2011 9:49:24 PM PDT by savagesusie
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To: neverdem

This is likely to be a common finding, that the genetics of most diseases depend on varied combinations of relatively rare mutations. This will make cures rare and treatments more difficult than was projected at the outset of the human genome project.


8 posted on 06/09/2011 9:54:58 PM PDT by Rockingham
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To: neverdem
I have always had the pet theory that autism is nothing more than Neanderthal DNA trying to exert itself.
9 posted on 06/09/2011 10:11:58 PM PDT by TexasFreeper2009 (Obama = Epic Fail)
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To: Incorrigible; dog breath; rangerwife; Little Pig; heartwood; savagesusie; Rockingham; All
I should have checked Nature News' links first. They're all lame. Sorry about that. Deletions and duplications of genes are examples of copy-number variation (CNV). It's not simple Mendelian genetics anymore. Here you go.

Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

Rare De Novo Variants Associated with Autism Implicate a Large Functional Network of Genes Involved in Formation and Function of Synapses

Solving the Autism Puzzle a Few Pieces at a Time

10 posted on 06/09/2011 10:12:20 PM PDT by neverdem (Xin loi minh oi)
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To: neverdem

We live in the age of JUNK SCIENCE.

Google EPIGENOMICS and you will find out that exposure to substances or conditions from many generations ago has been proven....

It takes the main body of science a long time to catch up to new discoveries.

I once met an epigenomics researcher on an airplane. When I remarked about how epigenomics means the testing we do for toxicity and cancer, and mutations therefore had to be wrong and take place instead over many generations, he didn’t hesitate, he said.

Yes, but we can’t afford that level of testing, and it would spark all sorts of social “issues” and lawsuits.


11 posted on 06/09/2011 10:19:37 PM PDT by BereanBrain
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To: savagesusie

I’m sorry to disappoint you, but the mercury in vaccines has been removed from all childhood vaccines for many years now. They come only as unit doses now, so they don’t need any preservative.

The mercury containing thimerosal(sp?), the preservative, is only in the multidose seasonal influenza vaccines, IIRC.


12 posted on 06/09/2011 10:20:05 PM PDT by neverdem (Xin loi minh oi)
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To: neverdem

I would also offer that it is possible that the actual cases of autism haven’t gone up, but the diagnoses have. I mean, come on, doesn’t every family have the weird bachelor uncle that was a social misfit? That person almost certainly would have been put on the autism spectrum today.


13 posted on 06/09/2011 10:35:45 PM PDT by Explorer89 (And now, let the wild rumpus start!!)
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To: neverdem

I know all about the history and the studies. I do know that when they took out the mercury they upped the aluminum which is also toxic to the body. They also started “recommending” that pregnant women get the flu vaccines...AND infants knowing they had mercury in them. No amount of mercury is safe—none when it concerns the developing brains of children.

They take the mercury out of all vaccines EXCEPT the flu ones and then highly recommend (force) pregnant women and babies to get the flu shot....hmmm couldn’t that skew results of “no” mercury.

Also when they took it out of the vaccines, they didn’t take the existing mercury-containing vaccines off the shelves. They allowed the doctors to use them which diluted the date of “removal”.

The Hep B vaccine which was new in the nineties was the most insidious because that is the one where they inject known toxins into a day old infant and then two more injections within a few month when there is no brain barrier so the toxins go right into the developing brain.

Why do this to a healthy baby? Why not wait till the body is more mature and able to excrete toxins from the body?

Don’t get me going on vaccines because I never heard of Autism in the 70’s. I had babies then—boys and never met an Autistic child. In the 80’s they tripled the shots that children got....funny coincidence....Autism not only appeared in the news, it spiked. All of a sudden people were talking about something I never ever heard of, and I worked with young children. Teachers I talked with who taught in the 50’s and 60’s had never heard of it. Never had kids with those “social” problems.

So, coincidence? Vaccinations were filled with known toxins and intentionally injected into immature little system where developing brains are very susceptible to damage by toxins. Logic? Toxins = Brain damage. That is a proven.

My interest started in the 90’s when gulf war syndrome was discovered to be caused by the preservative in vaccines and then funny thing....Congress limited liability claims for damage from vaccines to 250,000. Boy, pharmaceutical companies really have leverage. What a coincidence.


14 posted on 06/09/2011 10:53:52 PM PDT by savagesusie
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To: heartwood
if these random mutations are the only or primary cause of autism, it does not make sense that the incidence of autism has increased so much in the last twenty-five years.

All manner of things may effect fertility. There are different medications, diets, additives, lifestyles, pollutants, household products than 25 years ago. Some of the higher incidence may be a change in diagnoses.

If something was causing a greater number of mutations, we would be seeing an increase in all kinds of birth defects and cancers.

That doesn't necessarily follow.

15 posted on 06/09/2011 11:18:24 PM PDT by newzjunkey
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To: neverdem

Even worse, methylation often controls which genes are expressed or suppressed, and there is evidence that genes and methylation can vary even within an organ. This seems to be especially true in the brain.


16 posted on 06/09/2011 11:19:02 PM PDT by Rockingham
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To: savagesusie
They take the mercury out of all vaccines EXCEPT the flu ones and then highly recommend (force) pregnant women and babies to get the flu shot....hmmm couldn’t that skew results of “no” mercury.

Where do they give "pregnant women and babies...the flu shot," from multi-dose vials? They have unit dose syringes just for them. The increase in the incidence and prevalence of autistic spectrum disorder is most likely that the diagnosis was lumped into mental retardation in the past. Just look at how the Diagnostic and Statistical Manual of Mental Disorders (DSM), the bible of psychiatry, has grown and grown with each iteration.

17 posted on 06/09/2011 11:30:37 PM PDT by neverdem (Xin loi minh oi)
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To: El Gato; Ernest_at_the_Beach; Robert A. Cook, PE; lepton; LadyDoc; jb6; tiamat; PGalt; Dianna; ...
Phage on the rampage - Antibiotic use may have driven the development of Europe's deadly E. coli.

Water-air interface barely there - Transition zone extremely thin

How killer immune cells avoid killing themselves

Mayo Clinic-led Research Team Tests Alternative Approach to Treating Diabetes

FReepmail me if you want on or off my health and science ping list.

18 posted on 06/09/2011 11:45:51 PM PDT by neverdem (Xin loi minh oi)
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To: savagesusie

I agree that the adjuvants and preservatives, as well as the media and toxins themselves, in vaccines do put our new babies at risk for neurological damage. I would never vaccinate a child in the first year of life with tens of vaccines. It’s insane.

The studies on chromosome 7 are fascinating. Kids with Williams are nearly the opposite socially from kids with autism.


19 posted on 06/09/2011 11:52:23 PM PDT by Yaelle
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To: neverdem

If the money disappeared, so would all but the real diagnoses.


20 posted on 06/10/2011 12:05:55 AM PDT by PieterCasparzen (Conservative Christian Capitalists - I encourage you to visit my Profile)
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