Gene discovery holds promise for heart disease treatment

Since the introduction of statins in the late 1980s, doctors have been looking for a new medicine to further lower the risk of heart disease. A new study in the New England Journal of Medicine may have found it using genetics.


Statins, like Lipitor or Crestor, are taken by over 30 million Americans and are the most common type of fat lowering medication prescribed to fight heart disease. Statins decrease LDL or “bad” cholesterol, increase HDL or “good” cholesterol, and decrease triglycerides, a third type of fat.

A new frontier in heart disease is the understanding of genetics, or the study of genes. Each person has a unique code in his or her cells called genes, inherited from our parents. Genes help define many aspects of who one is, such as why one person has blue eyes and another has brown eyes. For heart disease, it is thought that genes play a role in why people have different levels of cholesterol.

Dr. Sekar Kathiresan, the director of preventative cardiology at Massachusetts General Hospital and an associate professor at Harvard Medical School, led a team of researchers that identified a new gene that contributes to heart disease. They analyzed over 18,000 genes from almost 4,000 individuals and found that those with a modified version of a gene called APOC3 had a 39 percent lower level of triglycerides, a 22 percent higher level of “good” cholesterol, and a 16 percent lower level of “bad” cholesterol. Patients who had a modified APOC3 gene also had a 40 percent lower risk of heart disease.

Dr. Kathiresan’s findings are very exciting. The hope is that the APOC3 gene can be targeted to make a new medication to fight heart disease. Researchers may start clinical trials in the near future. However, such a medication would be years away from being available to the general public.

One should not interpret the results to mean that lowering triglyceride levels will automatically decrease one’s risk of heart disease. APOC3 is associated with a lower risk of heart disease. But, if that lower risk is due to lower triglycerides, lower “bad” cholesterol, higher “good” cholesterol, or another factor is unclear. Even if the precise mechanism of APOC3 is not certain at this time, the gene will be an exciting target for drug development because of the large associated reduction in heart disease.

Genetic analyses have the promise to discover new medications. An APOC3 drug, if successful, could be the new statin doctors have been searching for decades.


Anant Mandawat, a graduate of Lakeside High School and Yale University’s Medical School, is a doctor of internal medicine at Massachusetts General Hospital and Harvard Medical School.


Tue, 08/22/2017 - 11:13

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