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Gene Mutations that Cut Risk of Heart Diseases discovered

Gene mutations that provide people naturally lower cholesterol levels and reduce their risk of heart disease by 50% have been discovered by scientists.

Leah Gardiner, West Texas News, Nov 14, 2014

This discovery is done by scientists from the Washington University School of Medicine in St. Louis, the Broad Institute at the Massachusetts Institute of Technology and Harvard, and other institutions.

This discovery may have huge implications for Zetia, a drug from Merck & Co, which mimics these mutations and has been sold without evidence that it reduces the risk of heart disease. Findings of the study will be revealed on Monday. The drug is sold in combination with another medicine as Vytorin.

When Zetia was developed, scientists were aware that how it worked to lower LDL, or bad cholesterol, and it also won federal approval based on its ability to do that.

But scientists didn't know about the existence of gene mutations that could do the same thing. Also, it was not known that lowering cholesterol this way would turn to a lower risk of heart problems. The new research provides a biological basis to recommend the drug that could help.

It was found that people with mutations in a gene called NPC1L1 had LDL, which was lower on average as compared with others without a mutation. The gene mutations lowered the risk of heart disease by 53%, which is a significant finding.

"It's a stunner. We're learning more and more about protective mutations and the effect these had on heart disease risk was far greater than the degree to which they lowered cholesterol", said Dr. Eric Topol, director of the Scripps Translational Science Institute in California.

On Wednesday, the New England Journal of Medicine published the findings of the study online. The work was funded by the National Institutes of Health.

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