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.


Ragingbear 10 years, 4 months ago

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

Ragingbear 10 years, 4 months ago

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

blackwalnut 10 years, 4 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.

blackwalnut 10 years, 4 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 10 years, 4 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.

Kathy Theis-Getto 10 years, 4 months ago

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

Paul Decelles 10 years, 4 months ago

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

blackwalnut 10 years, 4 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.

blackwalnut 10 years, 4 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.

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