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Errors In Single Gene May Protect Against Heart Disease: Study

Update Date: Nov 13, 2014 10:47 AM EST

Rare mutations that shut down a single gene are linked to a lower cholesterol levels and a 50 percent reduction in the risk of heart attack, a new study has found. 

The gene is called NPC1L1 and is of interest because it is the target of the drug ezetimibe - often prescribed to lower cholesterol, the press release said.

Naturally, everyone inherits two copies of most genes - one copy from each parent. The study found that people with one inactive copy of NPC1L1 appeared to be protected against high LDL cholesterol (bad cholesterol) and coronary heart disease.

"This analysis demonstrates that human genetics can guide us in terms of thinking about appropriate genes to target for clinical therapy," said first author Nathan O. Stitziel, MD, PhD, a cardiologist at Washington University School of Medicine, in the press release. "When people have one copy of a gene not working, it's a little like taking a drug their entire lives that is inhibiting this gene."

Researchers further noted that people with only one working copy of the gene had LDL cholesterol levels and average of 12 milligrams per deciliter lower than the wider population of people with two working copies of the gene. 

"Protective mutations like the one we've just identified for heart disease are a treasure trove for understanding human biology," said senior author Sekar Kathiresan, MD, of the Broad Institute, and director of preventive cardiology at Massachusetts General Hospital, in the press release. "They can teach us about the underlying causes of disease and point to important drug targets."

The study was published in The New England Journal of Medicine.

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