Thursday, June 10, 2010

New autism genes discovered

A new study published in the June 10, 2010 issue of the journal Nature has found a number of genetic variants in people with autism and the discovery may lead to new treatments.

The results from the second phase of the collaborative Autism Genome Project showed that individuals with autism tend to carry more sub-microscopic insertions and deletions called copy-number variants or CNV in their genome than those without the condition do.

Of the identified genetic variants, some appear to be inherited while others are believed news because they are only found in those with autism but not in their parents. None of the genetic mutations are individually responsible for ALL the symptoms, but each may play a small role.

Autism is a neurobiological disorder that inhibits an individual's ability to develop communication and social skills. People with the disorder have behavioral problems. One in every 110, more boys than girls, in the United States are affected by the disorder.

For the study, researchers from organizations in multiple countries including the University of Illinois at Chicago compared high density genotyping data collected from 1,000 individuals with autism and 1,300 without the condition.

The researchers discovered people with genetic mutations in genes including SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53–PTCHD1 locus are more susceptible to the development of autism. The genetic variants are found in about one percent of the populations.

The genes are involved in synapse-related pathways, cellular proliferation, projection and motility and intracellular signaling among other things.

"These results are another step on the long path to sufficiently understanding autism to further develop treatments for the core symptoms of autism," said Dr. Edwin Cook, UIC professor of psychiatry.

Just because an individual carries certain autism susceptibility genes or even the mutations does not mean he will definitely develop the disorder, a health observer commented. The study did not explain why the rate of autism has been on the rise.

Dr. Andrew Wakefield and colleagues early published a study in the medical journal called the Lancet suggesting that MMR vaccine has something to do with autism. Later some studies found no association between vaccine and autism.

Dr. John Cannell, a vitamin D expert and founder of the non-profit organization Vitamin D Council and colleagues found evidence suggesting that vitamin D deficiency may increase risk of autism and low prenatal vitamin D may negatively affect a child's brain development.

Some studies based on reports from parents of children with autism suggest nutrition intervention including supplementation of vitamin D may help autistic children. But studies are inconsistent.

Source http://www.foodconsumer.org/newsite/Non-food/Disease/new_autism_genes_discovered_1008100752.html

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