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Gene Mutation Discovery Paves Way for New Heart Drugs

Development of drugs could dramatically reduce disease

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This significant discovery could improve drug development and save lives.

In a series of studies, scientists have discovered a gene mutation that makes some people practically invulnerable to heart disease, even when they have such risk factors as smoking or diabetes.

The discovery involves mutations in genes that affect how the body processes triglycerides, a type of blood fat. The finding is significant because drugs that mimic the effect of the mutations could be used to dramatically reduce cardiovascular disease, the No. 1 cause of death in the United States.

Such medications, which are already in development but have not yet reached the marketplace, “will drive the final nail in the coffin of heart disease,” John Kastelein, M.D., a professor of vascular medicine at the University of Amsterdam, told the New York Times.

The drug developments at two companies, Regeneron and Ionis Pharmaceuticals, originated with an accidental discovery in 1994, when St. Louis resident Anna Feurer went to a health fair sponsored by her employer, Ralston Purina. Her cholesterol levels turned out to be freakishly low — a discovery that led to genetic testing and the eventual discovery of two genes that help regulate triglyceride metabolism.

The discoveries are “a huge advance,” Christie Mitchell Ballantyne, M.D., chief of cardiology and cardiovascular research at Baylor College of Medicine and a consultant for Regeneron (although not for the triglyceride studies). “What we are seeing is a new approach toward drug development.”

The most recent of the series of studies was published last week in the New England Journal of Medicine.

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