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Genomics research: New genetic 'hit list' may underlie susceptibility to sudden cardiac death

ROCHESTER, Minn. -- Researchers at Mayo Clinic have discovered that genetic variants associated with instances of sudden cardiac deaths are far more prevalent and diverse than first thought -- especially among minorities. The news comes from a study on a specific cardiac disorder affecting young people -- long QT syndrome -- which may kill as many as 3,000 teenagers and young adults in the United States annually.

"These findings are critical for the proper interpretation of genetic tests for diagnosing long QT syndrome," says principal author Michael Ackerman, M.D., Ph.D. "This extensive data set will aid in that interpretation and help investigators explore whether any of these new variants increase susceptibility to sudden cardiac death, which claims 350,000 lives each year."

The findings are published in the December issue of Mayo Clinic Proceedings (Mayo Clin Proc. 2003;78:1479-1487).

Long QT syndrome results from a primary genetic glitch involving the heart's electrical system and can cause episodes of fainting, seizing or sudden death. Its presence can often be detected with an electrocardiogram (ECG) where the interval between points Q and T is abnormally prolonged. If untreated, half the people with symptomatic long QT syndrome will die within ten years after the first symptoms are noticed.

First Genomics Analysis of Healthy Population

Mayo researchers conducted a comprehensive DNA analysis of 744 healthy volunteers from among four ethnic groups. This study group was unusual, not only for its size compared to previous studies, but because it included sufficient numbers of minorities to make findings statistically significant for those subgroups. The study included 305 black, 187 white, 134 Asian and 118 Hispanic individuals. Previous studies examined groups that included only long QT patients and their families, looking for genetic variants that cause this inherited syndrome. This Mayo-led study is the first compr
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Contact: Bob Nellis
newsbureau@mayo.edu
507-284-5005
Mayo Clinic
30-Dec-2003


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