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基因也许在帕金森氏病中起着更大的作用
http://www.100md.com 2001年11月15日 好医生
     WASHINGTON, Nov 13 (Reuters Health) - Heredity may play a bigger role than previously thought in development of Parkinson's disease at both an early and older age, US researchers announced here Tuesday.

    In the past, most studies suggested that environmental causes played a more important role than genes in patients who developed the disease later in life. Genes were thought to be a big player in more rare, early-onset cases of the disease in which patients began showing symptoms before age 40. Parkinson's disease is a neurological ailment characterized by tremors and muscle rigidity.
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    The new research shows that "genes are indeed important in the common form of Parkinson's disease," said Dr. Margaret Pericak-Vance, a study author and director of Duke University's Center for Human Genetics in Durham, North Carolina.

    Discovering the genes that contribute to the disease may one day lead to tests or possibly even treatments for the ailment.

    Scientists from Duke conducted genetic tests on hundreds of people from 174 families affected by the disease, and were able to pinpoint certain mutations that seemed to play a role in promoting Parkinson's development. The findings are published in the November 14th issue of The Journal of the American Medical Association.
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    The investigators confirmed that mutations in a gene known as parkin were contributing to development of the disease in people under age 60. But the mutation was also found in seven families that had members who developed the disease later in life, which surprised researchers.

    The scientists also found mutations located on chromosome 9q in nine families with members who had Parkinson's that was resistant to a common drug therapy, levodopa. The 9q region contains a gene called torsin A, which is known to be responsible for idiopathic torsion dystonia, a movement disorder that does not respond to levodopa therapy.
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    For the 147 families with people with late-onset Parkinson's, the most common form of the disease, mutations on the 17q chromosome were common.

    That region is close to another gene, called tau. That gene is already known to cause two rare forms of Parkinson's. The Duke researchers found that three mutations of the tau gene were very closely associated with late-onset disease.

    Pericak-Vance said this new gene might be an important new target for research into Parkinson's causes and therapies.
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    There is no way to know currently how common the mutations in the parkin and tau genes are in the general population, said Pericak-Vance, noting that there are no tests available yet. But, armed with these results, the researchers may pursue studies in a wider population.

    The studies were partly paid for by the US National Institutes of Health and GlaxoSmithKline Inc.

    SOURCE: The Journal of the American Medical Association 2001;286:2239-2244., http://www.100md.com