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News › Genes play role in autism, researchers find
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Research: Genes play role in autism, researchers find
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Posted by sylvia on Tuesday, November 08, 2005 (20:54:12)
News Leader August 2005
By Sandy Kleffman
Providing one more clue for solving the autism mystery, researchers have discovered that the brain mechanism that stops or slows nerve impulses contributes to the disorder.
A team at Duke University Medical Center in Durham, N.C., found that genes that serve as "off switches" in the brain's neurons play a role. Exactly how such genes interact and what happens in the brains of autistic children remains unknown.
But the findings are sure to intrigue the many parents of autistic children who have long suspected their children suffer from a sensory overload.
The study will be published in the September issue of the American Journal of Human Genetics.
Autism remains one of the great mysteries of modern times. Once a rare disorder, it has drawn increased attention as the number of diagnosed cases jumped dramatically in recent years, sending scientists scrambling in search of a cause.
The latest study focused on gamma aminobutyric acid or GABA, a chemical that inhibits brain nerve cells from firing, thus telling the body to slow down. It acts as a sort of information filter, preventing the brain from becoming overstimulated.
"If it's not working or something's wrong with the GABA system, then you would think that there may be sensory overload," said Margaret Pericak-Vance, a lead researcher on the study and director of the Duke Center for Human Genetics. "This is what we think might be going on," she said. "Now what exactly is happening and how this is happening, we don't know that yet."
Most scientists believe there is a strong genetic component to autism. At least 10 genes and as many as 100 may be involved.
But thus far, researchers have been stymied in their attempt to find a single gene that plays a major role, Pericak-Vance said.
The latest study found that one GABA receptor gene interacting with a second GABA gene appeared to increase the risk of developing autism.
That led researchers to conclude that it may be a complex interaction of several genes that make children susceptible to the disorder.
"There's probably a minimum of 10 genes involved and it's going to be a challenge to try to decipher what they all are and the size of their effect," Pericak-Vance said.
"It's not a simple situation like some of the classic genetic diseases such as Huntington's disease or cystic fibrosis."
The study sheds no light on one of the most controversial issues surrounding autism: whether environmental factors trigger the disorder in genetically susceptible children. Parents have placed the blame on everything from mercury-containing vaccines to the numerous other chemicals young children are exposed to daily.
Others argue that better diagnosis and more awareness have caused the increase.
Pericak-Vance said the jury is still out.
The Duke University researchers examined 14 genes involved with the GABA receptor in 470 white families. They tested for associations between gene variations and the disease. They also used statistical methods to explore gene combinations.
The researchers hope their findings will lead to a method for determining children at highest risk of autism.
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Posted by sylvia on Tuesday, November 08, 2005 (20:54:12) (810 reads)
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