Gene flaws that reduce fat in blood may protect against heart disease

Posted: June 23, 2014 at 1:55 am

WASHINGTON - A rare set of genetic mutations found in fewer than one percent of the population may cut the risk of heart disease by 40 percent, researchers said Wednesday.

The findings in the New England Journal of Medicine show how certain flaws in a gene called APOC3 work to reduce a certain type of fat found in blood, known as triglycerides.

About one in 150 people carry one of these four genetic mutations, said the findings based on a study of the DNA of nearly 4,000 people of European and African ancestry.

Normal levels of triglycerides are generally less than 150 milligrams per deciliter (mg/dL). Among those with any of the four APOC3 mutations, triglyceride levels were around 85 mg/dL.

"Based on our findings, we predict that lowering triglycerides specifically through inhibition of APOC3 would have a beneficial effect by lowering disease risk," said senior co-author Alex Reiner, a research professor of epidemiology at the University of Washington's School of Public Health.

Drugs already exist that can lower triglycerides -- which like cholesterol are a type of lipid in the blood -- but these have not been proven to lower the risk of heart disease, perhaps because they don't lower the lipids enough, researchers said.

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Gene flaws that reduce fat in blood may protect against heart disease


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