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Genetic Cause of Statin-Related Muscle Pain Found
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Page: << Prev | 1 | 2 It might be worthwhile testing people who are prescribed high doses of statins for the variant gene, Collins said. While the genetic technology now is available in the laboratory, "a routine screening test for family physicians would have to be developed," he aid. "That would not be very complicated."
Discovery of the myopathy genetic variant is a remarkable example of the powerful tools now available for probing the human genome, said Dr. Sekar Kathiresan, director of preventive cardiology and a principal investigator at the Human Genetic Research and Cardiovascular Research Center at Massachusetts General Hospital.
"They looked across 300,000 spots across the genome and found what the prevalence of the variant was in a very small number of people -- 85 with myopathy and 90 without," Kathiresan said. "This kind of search of the entire genome for variants that put people at risk has only been possible for the last two years or so, since we have the entire sequence of the genome."
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There are about 2 billion units in the human genome, "and people differ at 10 or 12 million of those 2 billion," he said.
Other genetic variants probably are responsible for some cases of statin-related myopathy, Kathiresan said, "but probably none with as strong effect as the one they found."
Using the discovery in medical practice is "an open question," he said. "About 2 percent of people carry two variant copies," Kathiresan said. "The next step is to see whether knowing who those 2 percent of the people are can avoid myopathy."
More information
For more on statins, consult the American Heart Association.
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Copyright © 2008 ScoutNews, LLC. All rights reserved.
Last updated 7/23/2008
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SOURCES: Rory Collins, M.D., professor, medicine and epidemiology, Oxford University, England; Sekar Kathiresan, M.D., director, preventive cardiology, Massachusetts General Hospital, Boston; July 24, 2008, New England Journal of Medicine, online
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