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Flip-flopped chromosome reveals a first clue to Tourette syndrome

Researchers have identified the first gene mutation associated with Tourette syndrome opening a new avenue for understanding the complex disorder that causes muscle and vocal tics.

Until now, causes of Tourette syndrome (TS), which afflicts as many as 1 in 100 people, have eluded researchers because the disease appears to be caused by subtle mutations in many genes.

The researchers published their findings in the October 14, 2005, issue of the journal Science. Matthew W. State of the Yale University School of Medicine was senior author of the paper. His research was supported by a Howard Hughes Medical Institute institutional award to Yale that was used to support early research by promising scientists at Yale.

Other co-authors at Yale included HHMI investigator Richard P. Lifton, and neurobiologists Nenad Sestan and Angeliki Louvi from the Yale Child Study Center. The Yale scientists collaborated with researchers from the University of California San Diego, Harvard Medical School, University of Missouri-Kansas City, University of Alabama at Birmingham, Johns Hopkins University School of Medicine and Cincinnati Children's Hospital Medical Center.

According to State, early theories suggesting that a single gene mutation causes TS have proven incorrect. "There has been an evolving hypothesis about Tourette syndrome being a much more complex disorder," State said. "I think there is general consensus at this point that there are likely to be multiple genes, likely interacting, and probably different sets of genes in different people, that contribute to TS." The notion of multiple genes is borne out by the complex phenotype of the syndrome, which is often associated with obsessive-compulsive disorder, attention deficit hyperactivity disorder, or depression, said State.

To search for a TS-related gene, State and his colleagues adapted an approach used by Lifton to search for causative genes involved in cardiovascular, renal, and bone diseases. "W
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Contact: Jim Keeley
keeleyj@hhmi.org
301-215-8858
Howard Hughes Medical Institute
13-Oct-2005


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