If you’re not one of the lucky gene carriers, it’s still good news. The gene mutation ends up causing lower-than-normal production of a protein called ApoCIII. You may have heard of some of the other factors that indirectly lower ApoCIII: weight loss, cholesterol-lowering drugs, and fish oil.
The discovery that directly lowering ApoCIII via the mutation is not harmful—and indeed, might be beneficial—could help researchers develop new therapies to fight heart disease, says Pollin.
Pollin adds that the gene variant is rare in the general population, but the effects of reducing the amount of ApoCIII can be universally beneficial. “Over a lifetime, having less ApoCIII confers a favorable lipid profile, which appears to be cardio-protective,” Pollin says.
Karol Watson, MD, PhD, codirector of preventative cardiology at the University of California, Los Angeles, cautions that although some cholesterol-lowering drugs decrease ApoCIII, it is an indirect effect and not the primary reason they protect against cardiovascular disease. She did say that the new study and others like it could have important implications for fighting heart disease in the general population.
“In the last few years, a couple of different genetic mutations have been discovered that confer lifelong beneficial positive lipid levels and protection from heart disease,” she says. “It’s a great starting point for possible drug development or public health measures. Hopefully, understanding and researching this small Amish group will help us find broader approaches that can do the same thing for us genetically unlucky people.”
The study, part of the University of Maryland’s larger Heredity and Phenotype Intervention Study that examined how genes and lifestyle factors influence the risk of developing cardiovascular disease, was funded by the National Heart, Lung, and Blood Institute.
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