Gene Mutations May Lower Cholesterol, Heart Attack Risk

Mutations to NPC1L1, the gene targeted by cholesterol medication Zetia, may lower cholesterol and heart attack risk

/ Author:  / Reviewed by: Joseph V. Madia, MD Beth Bolt, RPh

(RxWiki News) Mutations to a single gene may lower cholesterol, a new study found. These findings may mean that a cholesterol-lowering medication that targets that same gene could have a new use with preventing heart attacks.

Ezetimibe (brand name Zetia) targets the NPC1L1 gene, which aids in the absorption of cholesterol. High cholesterol is a known risk factor for heart disease.

The new study found that, when mutations shut off the NPC1L1 gene, patients had lower levels of LDL cholesterol, also known as "bad" cholesterol. According to the researchers, this finding suggests that Zetia might have the same effect — which could mean it could lower heart disease risks.

“Protective mutations like the one we’ve just identified for heart disease are a treasure trove for understanding human biology,” said senior study author Sekar Kathiresan, MD, of the Broad Institute, in a press release. “They can teach us about the underlying causes of disease and point to important drug targets.”

The researchers noted that the findings do not make a direct conclusion about Zetia's ability to lower heart disease risk in patients. A clinical trial set to release soon might, however. Merck, which markets Zetia, will announce the results of a large trial of the medication Monday.

The current gene study was published Nov. 12 in the New England Journal of Medicine.

Grants from Merck and the Canadian Institutes of Health funded the current study. The authors disclosed conflicts of interest on the journal website.

Review Date: 
November 12, 2014
Last Updated:
November 17, 2014