2 Genes Implicated in Autism

Finding might lead to better diagnosis, treatment, study suggests

Posted: February 9, 2009

MONDAY, Feb. 9 (HealthDay News) -- Multiple, interacting genetic risk factors may influence the severity of autism, a new study suggests.

Massachusetts Institute of Technology researchers said they've pinpointed two genes that cause autism-like symptoms in mice. The findings support a long-held theory that more than one gene is involved in people with genetic-based autism.

The researchers said their discovery could lead to the development of drugs that target signaling mechanisms between genes that interact to cause some symptoms of autistic spectrum disorders (ASDs).

The study found that mice with mutations in two different candidate autism susceptibility genes -- PTEN and the serotonin transporter gene -- had more severe symptoms than mice with only a single mutation. Mice with a mutation in PTEN alone or in the serotonin transporter gene alone had brains that were larger than normal, while mice with mutations in both genes had even larger brains.

About 24 percent of people with autism have larger-than-normal brain size. In people with ASDs, brain size is correlated with the severity of behavioral problems, the researchers said.

The MIT study also found that female mice with a mutation in the PTEN gene had impaired sociability, and those with mutations in both PTEN and the serotonin transporter gene had more severe symptoms.

"We found that two genetic risk factors for ASDs act cooperatively in mice to influence brain size and social behavior, both of which are altered in ASDs," lead investigator Damon T. Page, a postdoctoral fellow at MIT's Picower Institute for Learning and Memory, said in an MIT news release.

"Our results provide evidence that the severity of autistic symptoms may be the product of variations in DNA in multiple locations in the genome," Page added.

The study was published in the Feb. 9 online edition of the journal Proceedings of the National Academy of Sciences.

More information

The U.S. National Institute of Neurological Disorders and Stroke has more about autism.

To Maurine Meleck of SC

Precious time and money has already been wasted on many studies of unvaccinated vs vaccinated children. There is no link between vaccines and autism:

http://www.nytimes.com/2009/02/13/health/13vaccine.html

Autism is one of the most heritable diseases, so genetics must be involved:

http://en.wikipedia.org/wiki/Heritability_of_autism

Madan of TX @ Feb 13, 2009 15:09:22 PM

wasted time and money on genetic studies

Enough with the genetic studies already. There cannot be a genetic epidemic of autism. Wasting precious time and money. Better spent on an unvaccinated vs vaccinated study of children.

Maurine Meleck of SC @ Feb 11, 2009 08:48:45 AM

Jeremy

I'm certain you are a wonderful father. Your acceptance is a breath of fresh air because I too accept my son's many and various ways to communicate his love and attachment to this family. And I know that there are many children out there who are just like your son, but mine is not. His head is normally sized, he regressed immediately after his vaccination of the MMRV (ProQuad) which was taken off the market right after my son received his injection. ProQuad is now known to cause encephalitis which my son has.

http://www.fda.gov/cber/label/proquadLBinfo.htm

The DNA, RNA, genetic study done on my son was extremely expensive and extremely thorough. The PTEN and the serotonin transporter gene are well known by the neurologists studying my son's injury. Everything was normal.... well except one gene that they found which may cause some heart problems down the road.

My son was sick when he received his vaccine. Blood test taken the day of his 12 month vaccinations show a compromised immune system. He had not recovered from a recent bout with Roseola, a herpes virus similar to the chicken pox virus in the vaccine. Who knows what would have happened had Ben been healthy but the point is he developed autism or autistic like symptoms which is quiet remarkable.

If vaccines don't cause autism then why did my son utter his last sentence after the vaccine? Why did he start walking on his tippy toes? What happened to his eye contact and already developed social skills? And why is it that he gets a high fever every other week? Does encephalitis cause these things? Or do vaccines that are administered to unhealthy children?

Who has ever read the adverse reaction label on the vaccines prior to having them injected into their child?

We asked our doctor, he said not to worry, vaccines are safe.

BTW when I grew up I had chicken pox, measles and the mumps, so did all my friends. I never knew anyone with autism growing up, never even heard of it either, did you?

email me anytime bensmyson at gmail.com

bensmyson of NC @ Feb 10, 2009 21:00:14 PM

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