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Broken Gene Protects Against Heart Disease: Study

Update Date: Jun 19, 2014 11:03 AM EDT

Researchers have discovered four rare gene mutations that apart from lowering the levels of triglycerides, reduce a person's risk of coronary heart disease as much as by 40 percent. 

The study noted that the mutations all cripple the same gene called APOC3, which suggests a powerful strategy in developing new drugs against heart disease. 

"The combination of our genetic results, together with recent clinical trials of drugs that raised HDL levels but failed to prevent heart disease, are turning decades of conventional wisdom on its head," said senior author Sekar Kathiresan, a Broad associate member and director of preventive cardiology at Massachusetts General Hospital, in the press release. 

"HDL and triglycerides are both correlated with heart attack, and have an inverse relationship with one another-the lower the HDL, the higher the triglycerides. It has long been presumed that low HDL is the causal factor in heart disease, and triglycerides are along for the ride. But our genetic data indicate that the true causal factor may not be HDL after all, but triglycerides."

The study also sheds light on the biological role of triglycerides contributing to a growing body of knowledge that high triglyceride levels are main reason for heart disease. 

"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 member of the Public Health Sciences Division at Fred Hutchinson Cancer Research Center and a research professor of epidemiology at the University of Washington's School of Public Health.

"Although statins remain a powerful arrow in the quiver, the notion of residual risk of coronary heart disease continues to be a significant clinical problem," added Kathiresan, in the press release. "Our study really reinvigorates the idea of lowering triglycerides and specifically, by blocking APOC3, as a viable therapeutic strategy for addressing residual risk."

The study has been published in New England Journal of Medicine

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