A Common Gene Mutation Increases Risk of Heart Disease

In a recent study lead by Dr. Annabelle Rodriguez-Oquendo, a UConn Health endocrinologist, researchers discovered that a common gene mutation, the missense rs4238001variant, significantly increases the carrier’s risk of heart disease.  The study looked at data from more than 5,000 people of multiple ethnicities and tracked their genotypes and heart health over a seven-year period.

What they found was that those who had the missense rs4238001 variant gene mutation were as much as 49 percent more likely to suffer from heart disease than the general public. Overall, men who carried this mutation had a 29 percent increased risk over those who did not. African-American male carriers were most at risk with a 49 percent increased chance of developing heart disease.

The missense rs5238001 mutation affects the gene that regulates cholesterol. It does this by altering the type of protein made by the gene SCARB1. Unfortunately, this mutation is not rare. Thanks to a genetic test, which has already been developed, the mutation can be easily detected with a simple blood test.

Right now, there is not a lot that clinicians can do for their patients who have this mutation beyond counseling them about their increased risks and recommending heart-healthy activities and lifestyle changes.  One potential treatment option that may help keep heart-disease at bay is to adjust the patients’ hormone levels to change the way their bodies metabolize cholesterol.

What this study’s research team really wants is to discover a way to fix the mutation. “We want to go deep in the cell and figure out how to repair it,” stated Dr. Rodriguez-Oquendo. “We’re really interested in understanding more about how this protein gets chewed up and degraded faster.”

You can learn more by reading about the study here.