Heart-healthy mutations

An analysis of genetic and other health data from thousands of U.S. military veterans is helping scientists find clues for treating heart disease and diabetes.

The study of 297,626 veterans zeroed in on three mutations associated with improved cholesterol levels but with other benefits: A mutation in the PDE3B gene protected against heart disease, a PCSK9 mutation protected against heart disease and abdominal aortic aneurysm, and an ANGPTL4 mutation reduced Type 2 diabetes risk.

The mutation in PDE3B is intriguing, said senior author Tim Assimes, MD, PhD, because there’s an inexpensive drug on the market­ — cilostazol — that mimics its effects on cholesterol levels. It could be a candidate for treating heart disease, he said, though more research is needed.

“We’ve been misled before by drugs that had effects on cholesterol, but they turned out to be cosmetic,” he said. “Better cholesterol profiles can look great, but if the drug doesn’t affect the outcome you’re aiming for, which is heart attack in this case, then it’s useless.”

Assimes, an associate professor of cardiovascular medicine, conducted the study, published Oct. 1 in Nature Genetics, with colleagues at Stanford and the Veterans Affairs Palo Alto Health Care System.