In a study published in the September issue of American Journal of Medical Genetics, Duke University Medical Center researchers report some of the first evidence that complex genetic interactions account for autism risk. Autism is known to have a strong genetic component that likely involves multiple interacting genes. By using a novel analytical method that allow the researchers to rigorously test for the role of such gene combinations in autism for the first time, the team led by Dr. Margaret Pericak-Vance demonstrates that variants in one of the GABA receptor genes, GABRA4, is associated with autism. They also found that GABRA4 appears to increase autism risk through its interaction with a second GABA gene, GABRB1. Since GABA neurotransmitter helps nerve cells to "slow down", the receptors serve as protein "off switches" that keep the brain from being overwhelmed.
Impairment of the GABA system could therefore lead to sensory over-stimulation and other symptoms associated with autism. In addition, with existing medications already targeting the GABA system, as researchers learn more about the role it plays in autism, new therapies could be advanced. These studies was partially funded with a NAAR research award to Dr. Pericak-Vance, who have contributed significantly over the past decade to knowledge surrounding the role of chromosome 15 in autism. In addition, Dr. Pericak-Vance is a principle investigator of the Autism Genome Project, funded by NAAR.
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