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Member Research and Reports

Member Research and Reports

BU: Rare Gene Mutations May Prevent Heart Disease

A kind of rare gene mutation may prevent heart disease, according to a new study co-led by a Boston University School of Public Health (BUSPH) researcher.

The study, published in the journal Circulation: Genomic and Precision Medicine, finds that protein-truncating variants in the apolipoprotein B (APOB) gene are linked to lower triglyceride and LDL cholesterol levels, and lower the risk of coronary heart disease by 72 percent.

These APOB variants are among the causes of a disorder called familial hypobetalipoproteinemia (FHBL), which causes a person’s body to produce less low-density lipoproteins (LDL) and triglyceride-rich lipoproteins. People with FHBL generally have very low LDL cholesterol, but are at high risk of fatty liver disease.

“An approved drug, Mipomersen, mimics the effects of having one of these variants in APOB, but, due to the risk of fatty liver disease, clinical trials for cardiovascular outcomes won’t be done,” says Dr. Gina Peloso, the study’s co-lead author and an assistant professor of biostatistics at BUSPH. “Using genetics, we provided evidence that targeting this gene could reduce the risk of coronary heart disease.”

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