11 May 2009

Finding of 1st Autism Gene

The puzzle piece ribbon is used by some autism...The puzzle piece ribbon is used by some autism societies Image via Wikipedia

From Denny: The first gene linked to autism has been found by researchers. They believe it may account for as much as 15% of cases diagnosed.

Researchers speculate the problems underlying other cases could be changes in brain connections as reported in three recent studies published in the journals of Nature and Molecular Psychiatry.

Right now the statistics from the Centers for Disease Control and Prevention are that autism affects one in 150 children in America. Obviously, these new findings cannot offer hope for an immediate treatment, it does contribute to the explanation of the underlying cases of the disease.

From Dr. Raynard Kington, National Institutes of Health acting directory: "These findings establish that genetic factors play a strong role in autism spectrum disorder. Detailed analysis of the genes and how they affect brain development is likely to yield better strategies for diagnosing and treating children with autism."

What is the range of autism disease?

Autism is actually a spectrum of diseases. It can be severe with a profound inability to communicate with others which is what the public is most familiar. It can be found as mental retardation. The milder symptoms are known as Asperger's Syndrome.

The medical field has always been at a loss to explain the phenomenon of autism. What they do know is that autism tends to run in families which suggests an underlying genetic cause.

From Dr. Thomas Insel who is director of the National Institute of Mental Health (NIH): "Previous studies have suggested that autism is a developmental disorder resulting from abnormal connections in the brain. These three studies suggest some of the genetic factors which might lead to abnormal connectivity."

What did an international study do?

Researchers studied the DNA of 12,000 people. There were volunteers who were unaffected by autism and there were those who came from autism affected families.

From Dr. Hakon Hakonarson at Children's Hospital of Philadelphia, who also worked on the study: "We estimate that the variants we discovered may contribute to as many as 15 percent of autism spectrum disorder cases in a population."

Another researcher who worked on the study, Tony Monaco, Wellcome Trust Center for Human Genetics at the University of Oxford (Britain): "Most of the genes that have been identified in these studies are involved in the connections between neurons called synapses."

"This does seem to fit with what we know from brain scans - people with autism may show different or reduced connectivity between different parts of the brain."

People with autism are not the only ones to exhibit these mutations though.

From another doctor who worked on the study, Dr. Daniel Geschwind, University of California at Los Angeles, "While this gene variant is common in the general population, we discovered that it occurs about 20 percent more often in children with autism."

From Dr. Margaret Pericak-Vance, University of Miami, providing additional information, "Until now, no common genetic variant has been identified with such overwhelming evidence to support its role in autism spectrum disorders."

Written by Denny Lyon





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