news-022615-genetics
Baylor researchers look beyond statins to genetics to improve heart health.

Therapeutic interventions such as statins can help to reduce cholesterol levels to improve heart health, but not everyone reacts the same to those medications. Researchers at Baylor College of Medicine are looking at a new approach based on novel genetic studies when it comes to treating and preventing heart attacks and strokes for those who are not helped by statins alone.

“There is a new promising therapy being tested right now called PCSK9 inhibitors, and it became a focus of research after it was found that the PCSK9 gene played a role in LDL cholesterol levels,” said Dr. Christie Ballantyne, professor of medicine and chief of the section of cardiology at Baylor.

Ballantyne explained that PCSK9 plays a role in the regulation of the number of LDL receptors, which control the LDL cholesterol levels in the bloodstream – the more receptors, the lower the LDL cholesterol.

Past studies showed that certain families with an inherited form of high cholesterol were found to have a gain-of-function mutation, meaning PCSK9 was overactive, which caused the increased removal of LDL receptors and, in turn, caused higher levels of LDL cholesterol.

Researchers then looked to the genetics of people with healthy levels of cholesterol and found that in some cases, there is a loss-of-function mutation that had the opposite effect –  reduced PCSK9 function caused the production of more LDL receptors, which lowered LDL cholesterol, greatly reducing the risk of heart attack and stroke. (These findings were part of the ongoing Atherosclerosis Risk in Communities study, a multisite, long-term study designed to investigate the causes of atherosclerosis and its clinical outcomes.)

“The question we are studying is whether you can reduce the risk of heart attack and stroke by inhibiting PCSK9 in people who are on statins but are not seeing sufficient reduction in LDL cholesterol levels,” said Ballantyne, who also is director of The Maria and Alando J. Ballantyne, M.D. Atherosclerosis Clinical Research Laboratory, director of the Center for Cardiovascular Disease Prevention at the Methodist DeBakey Heart Center and co-director of the Lipid Metabolism and Atherosclerosis Clinic at The Methodist Hospital. “So far, the early results show promising reductions in the levels of LDL cholesterol and the trials to examine the impact of PCSK9 inhibitors on heart attack and stroke are ongoing now.”

To find out if you qualify for this study go to the Baylor College of Medicine site and read about the “High Cholesterol Study.”

Find more heart related clinical trials at Baylor College of Medicine here.