Archive for Saturday, January 12, 2008

Studies link autism to genetic defects

January 12, 2008


Researchers this week identified two separate genetic defects linked to autism, one that directly causes the disorder in about 1 percent of all cases and a second that may play a role in a larger percentage of patients by increasing their susceptibility to environmental or other genetic influences.

The findings offer hope that it may be possible to identify vulnerable children early in life and begin treatment to mitigate the effects of the disabling disorder, which is marked by poor language ability and strong social isolation. Autism now affects 1 in every 150 U.S. children.

In the first study, headed by geneticist Mark J. Daly of Massachusetts General Hospital, a team called the Autism Consortium reported Thursday in New England Journal of Medicine that deletions or duplications of a specific small segment of chromosome 16 increases the risk of autism one-hundredfold.

The genetic defect was found in children with autism but not in their parents, indicating a spontaneous mutation that occurred after fertilization. The location, called 16p11.2, is what is known as a genetic "hot spot," meaning it is unusually susceptible to such mutations.

The deletions or repetitions were found in 24 of 2,252 people in families with at least one autistic member but in only two out of 18,834 people without the disorder.

The team is now trying to identify the specific gene involved.

The second defect was originally identified in 2006 in four Amish children. Three groups of researchers independently reported Friday in the American Journal of Human Genetics that they had identified the same defect in much larger groups of subjects.

The gene they found is called contactin-associated protein-like 2,or CNTNAP2, which produces a protein that allows brain cells to communicate with one another.

"This gene not only may predispose children to autism," said Dr. Daniel Geschwind, "it may also influence the development of brain structures involved in language, providing a tangible link between genes, the brain and behavior."

Geschwind, of David Geffen School of Medicine at the University of California, Los Angeles, is one of the researchers involved in the study.


Marion Lynn 6 years, 3 months ago

You paid attention and the proof of that is your response.

I am neither "sad" nor "lonely" and find it interesting that you, as your parting shot, resort to Ad Hominem attacks.

Now who is "sad"?


blackwalnut 6 years, 3 months ago

Marion says: I could go on as there is much more like this one but I would merely be casting perals before swine.

Do you expect anyone pays attention to you when you frame any discussion like this?

You must be a sad and lonely man.


blackwalnut 6 years, 3 months ago

Marion you have The Google also and can find such links on your own. There are too many to cite.

Start with this one:

Since mercury was only removed in 2003 and still remains in some flu and tetanus shots, I fail to see the validity in your comment.

Autism is believed by researchers and doctors to have multiple etiologies including the effects of the vaccines themselves, apart from any mercury content. Organophosphate fertilizers are a factor. Gut walls damaged by antibiotics or vaccines are blamed. Moreover, it's a disease that only a small part of the population seems to be susceptible to. I don't care to argue about all this, save to say that I'm fairly certain I know more about autism than you, having spend hundreds of hours myself researching this disease and having attended several conferences on autism research.


Paul Decelles 6 years, 3 months ago

Here is a well balanced and non technical look at mercury in fish and the risks involved:


Kathy Getto 6 years, 3 months ago

PERALS = Photon-Electron Rejecting Alpha Liquid Scintillation? What?


Marion Lynn 6 years, 3 months ago

See, you guys are using an improper form of logic which has a name; "Post Hoc, Ergo, Propter Hoc": "After this, therefore because of this.", a form of bad logic which leads you away from the truth.

You prefer to believe that mercury is the cause, in spite of the best scientific evidence to the contrary.

You are allowing your emotions (Emotions being completely irrational!) to rule, rather than facts.

What "qualiafies" me to make such judgements?

Critical thinking; that's what, an ability which some of you seem to lack.

By drawing conclusions which support your preconcieved notions, you lead yourselves away from the truth.


Please cite your studies and refer us to studies which established that any mercury poisoning was directly related to the mercury-based preservatives once used in vaccinations.

Further, please link us to citations which show that the increase in autism noted AFTER such preservatives were removed is somehow related to the mercury.

The evidence is just not there but to be safe, the manufacturers removed the mercury and, "Voila!".....


...the rise in "autism" continued; the obvious conclusion being another cause entirely.

If I may quote from the source cited below:

"Most recently, public anxiety about autism has been raised as a result of reports linking the measles, mumps, and rubella (MMR) vaccine with autism and inflammatory bowel disorder and a rise in the prevalence of autism.1 2 This has resulted in a serious fall in immunisation rates,3 despite the epidemiological evidence of a lack of association,4 and strong reassurance from the Department of Health and the Royal College of Paediatrics and Child Health about the safety of the MMR vaccine. Parents of children with autism continue to express the view that the medical profession does not take their concerns about possible causes of autism seriously. "Miracle cures" for autism-for example, with secretin-have received wide publicity through television and raised enormous hopes before being placed in their proper context by double blind trials that have not confirmed a curative effect."

"Firstly, although autism is behaviourally defined, it is now well recognised to be the endpoint of several organic aetiologies. These include prenatal insults such as rubella infection, untreated metabolic disorders such as phenylketonuria, anticonvulsants taken in pregnancy, localised lesions as in tuberous sclerosis, and postnatal infections such as encephalitis. However, a specific medical cause is found in only a minority of people with autism (6-10% depending on the study), albeit more often in those with pronounced learning problems.5 Epilepsy occurs more commonly than usual in autism"

I could go on as there is much more like this one but I would merely be casting perals before swine.


blackwalnut 6 years, 3 months ago

EPA and the Centers for Disease Control estimate that 630,000 children are born every year with unsafe levels of mercury in their blood.

Their mother's wombs have literally poisoned them.


blackwalnut 6 years, 3 months ago

Whom to believe about mercury and autism:

Thousands of parents who saw their children go from normal to autistic and their physicians who tested them for mercury poisoning and found them positive?

Or Marion, who has - exactly what to qualify him to speak this issue? How many hours have you spent researching and reading about this issue?


blackwalnut 6 years, 3 months ago

Marion (Marion Lynn) says: Sure! According the the Left, all "chemicals" are bad,

Right Marion, we're all dumb as posts and none of us are scientists or capable of understanding science.

Keep making moronic statements like that and who would bother to consider anything you say? You must really enjoy the sound of your own voice.


Ragingbear 6 years, 3 months ago

Wait, what? Mercury in it's pure form is healthy if inhaled? That is it's most toxic form.


Marion Lynn 6 years, 3 months ago


According the the Left, all "chemicals" are bad, mercury is a "chemical" and in point of fact, in its pure form, not good for you to inhale or ingest.

The fact is that mercury has not been found to be the culprit in this matter but people remember the "mercury in the fish" scare of a few years ago in which a very flawed study showed that ocean fish contatined high levels of mercury. The problem with the Janpanese study was that it was conducted in a river, right downstream from several factories which were indeed dumping large quatities of mercury into that river. The fish just downstream of the factories were indeed contaminated but subsequent studies demonstrated that the original study was seriously flawed and that ocean fish were fine.

You still see mercury warnings on cans of fish, ignoring the fact that you couldn't get mercury poisoning from those fish if you ate 20 lbs of fish for every day of your life.

I'd be much more worried about a compound like this one which is found almost everywhere these days:


Jackie Jackasserson 6 years, 3 months ago

so they got it not quite right the first time around, got more agencies involved in the research, but they can't ever be right because they weren't exactly right the first time?? it sounds like that is what is insinuated by bear. is this the logic of the times?


Ragingbear 6 years, 3 months ago

This study brought to you by the same company that thought up a mercury based preservative in the first place.


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