Discover genetic mutation that reduces risk of heart disease

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By scanning the DNA of almost 4,000 people, U.S. researchers have discovered four rare mutations of a gene that reduce the risk of coronary heart disease by 40%.

This discovery could enable the development of new treatments, researchers estimate whose works were published Wednesday in the journal New England Journal of Medicine.

The fats that circulate in the blood are linked to cardiovascular disease. They take various forms, such as the bad cholesterol (LDL), good cholesterol (HDL) and triglycerides.

The researchers focused on the role of triglycerides, which in excess amounts in the blood contribute ea cardiovascular disease. Conversely, a low level of HDL is not as bad as previously thought.

«Recent clinical research inconclusive molecules to increase the good cholesterol in combination with genetic results are altering decades of medical certainty,» explains Dr. Sekar Kathiresan, director of preventive cardiology service at Massachusetts General Hospital and lead author of study.

It has long been believed that a rate too low HDL is an important factor in cardiovascular disease continues. However, our research data «indicate that the true cause would not be an HDL too low, but high percentages of triglycerides,» he adds.

The genetic study showed that people who carry a gene mutation called «APOC3» had triglyceride levels about 40% lower than normal.

Thus, normal blood levels of these lipids are usually less than 150 milligrams per deciliter (mg / dl). For subjects with a mutated gene APOC3, triglycerides rates are around 85 mg / dl.

«Based on our findings, we predict that reducing triglycerides specifically through (…) the APOC3 would have a beneficial effect, reducing the risk of disease,» said co-author, Alex Reiner, professor of epidemiology at the School Public Health at the University of Washington.

There are already drugs that can lower triglycerides, but not proven to reduce the risk of heart disease.

Heart disease is causing the most deaths in the United States, where life costing 600,000 people per year.