Rare gene mutations may prevent heart disease

ScienceDaily | 5/13/2019 | Staff
darkkazune (Posted by) Level 3
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. Published in the journal Circulation: Genomic and Precision Medicine, the study 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.

Protein-truncating variants in the APOB gene 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 study co-lead author Dr. Gina Peloso, assistant professor of biostatistics at...
(Excerpt) Read more at: ScienceDaily
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