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Genetic Mutation Could Prevent Cardiovascular Disease


Groundbreaking research by University of Maryland School of Medicine scientists has demonstrated that mutations in a single gene protect against heart attacks by keeping triglycerides (a type of fat found in the blood) at low levels during a person's lifetime.

The research, led by Toni Pollin, PhD, associate professor at the School of Medicine, and reported in 2008 with a group of Amish subjects, showed that the Amish with a mutation in the APOC3 gene had less calcification of their arteries -- an indicator that they had less heart disease.

Two studies from Massachusetts General Hospital and Copenhagen University Hospital just published in The New England Journal of Medicine replicate Pollin's finding that mutations in this gene are responsible for naturally low levels of triglycerides, and further show that mutations reduce the risk of heart attacks by about 40 percent.

"What's exciting about this is it takes that to another place," says Pollin. "Just as you'd expect from something that reduces triglyceride levels and prevents coronary artery buildup, there is now strong evidence that having one of these mutations reduces the risk of having a heart attack."

Like Pollin's work, the new research shows that the mutated gene helps the body swiftly remove triglycerides from the bloodstream. The research also bolsters evidence that triglycerides play a role in heart attacks.

Read more about Pollin's research in The New York Times, The Boston Globe, or watch this video from ABC's Good Morning America.







Posting Date: 06/19/2014
Contact Name: Jill Yesko
Contact Phone: 410-706-3803
Contact Email: jyesko@umaryland.edu