Wednesday, July 9, 2014

Million Hearts Colorado: Rare Gene Mutations May Help Shield the Heart

HealthDay News -- Four rare mutations in a single gene reduce the risk of heart disease by 40 percent, a new study suggests.

The discovery could lead to the development of new drugs to fight heart disease, according to the researchers at the Broad Institute at Massachusetts General Hospital and colleagues.

Researchers conducted genetic analyses of nearly 4,000 people and identified genetic mutations that resulted in a decrease of the production of a protein that prevents the removal of triglycerides, a type of fat, from the blood. 

The findings suggest that high triglyceride levels -- rather than low levels of "good" HDL cholesterol -- play a major role in heart disease, according to the authors of the study in the June 18 issue of the New England Journal of Medicine.

"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," a senior author said.

"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."

Based on these findings, another member of the research team said preventive measures might need revision.

"We predict that lowering triglycerides specifically through inhibition of this gene would have a beneficial effect by lowering disease risk," a study senior co-author said. 

Drugs to lower triglyceride levels exist, but have not been shown to prevent heart disease. This may be because their effect on triglyceride levels is relatively modest compared to the much greater impact of the gene mutations, the researchers said.

Read the article here.

Cholesterol management is a key strategy of the Million Hearts Initiative, an effort to prevent 1 million heart attacks and strokes over five years.  Colorado participates in this initiative and you can too. Be one in a million - make your commitment and pledge today.

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