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Researchers Link Gene Defects To The Course Of A Deadly Form Of Heart Disease

Researchers have linked defects in three specific genes directly to the progress of a form of heart disease, coupling for the first time the presence of defective genes to the course that patients can expect the disease to take throughout their lifetime. The work on Long QT syndrome, a heart-rhythm disorder that afflicts an estimated 25,000 Americans and kills at least 3,000 of them without warning each year, is reported in the October 1 issue New England Journal of Medicine by researchers at the University of Rochester Medical Center.

The findings mean patients with Long QT syndrome will soon be able to learn whether they carry a defective gene that will cause them simple fainting spells, or forms of heart-rhythm disorders that can result in sudden death. Further, the study serves as a harbinger of the future of medicine, when doctors will use the knowledge of a person's genetic makeup to specify a treatment.

"Eventually, every discovered gene should be related to improving the care of patients, because that's what medicine is all about," says Arthur Moss, M.D., a co-author of the study and one of the world's leading experts on Long QT syndrome. "It's one thing to figure out which genes are related to different disorders, but in this study abnormal genes are being related directly to the different courses the disease can take. This approach of linking a defective gene to a clinical outcome is the major direction medicine will take in the next century."

Long QT syndrome is a genetic disorder that can stop its victims' hearts when they become excited. A telephone ring in the middle of the night or an exciting game of bowling can be fatal. Living with this disease means thinking twice about jumping into a swimming pool, working out, or playing sports without a "buddy" who can call 911 if trouble strikes.

Though the syndrome appears to be a single disease, it's actually the result of one of three possible defective genes that express themselves i
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Contact: Jonathan Sherwood
jonathan_sherwood@urmc.rocheser.edu
(716) 275-3676
University of Rochester
30-Sep-1998


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