Discovery of rare genetic mutations lead researchers toward new avenues to combat high cholesterol

Scientists are working to learn if new therapies can improve how good cholesterol functions rather than lowering bad cholesterol

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(COLUMBUS, Ohio) — An unexplained case of severe coronary artery disease in a seemingly healthy young man has led scientists at The Ohio State University Wexner Medical Center to a discovery that could lead to a new way to treat high cholesterol. After Marcus Wright suffered a heart attack at the age of 28, doctors found he had severe coronary artery disease and referred him to Dr. Ernest Mazzaferri, Jr. an interventional cardiologist at The Ohio State University Wexner Medical Center.

“His cholesterol and inflammation numbers looked pretty good, so it didn’t make sense why somebody like him would have such an advanced disease,” Mazzaferri said. “Marcus became the first patient I ever presented to our genetic scientists and said, ‘Nobody can figure out what’s wrong with this young man; I need your help to understand what’s wrong with him.’” 

At Ohio State, Sara Koenig and her team of researchers conducted genetic sequencing of Wright’s DNA and identified unique genetic variants that were causing his advanced disease. To better understand the potential implications of these genetic mutations, Koenig expanded her study to include other members of Wright’s family, identifying the same mutations in his mother, father and brothers. 

“This gene encodes a receptor for HDL, which is classically referred to as your good cholesterol,” said Koenig, an assistant professor of Internal Medicine at The Ohio State University College of Medicine. “We hypothesize that good cholesterol does not function as well in these individuals as the general population.”

As a result of Wright’s unique genetic mutations, researchers were able to determine that his good cholesterol was unable to clear out his bad cholesterol, leading to his advanced coronary artery disease. Now, researchers at Ohio State have identified certain drugs that can promote a healthy HDL function and are working on developing a new therapeutic drug that could provide an alternative treatment option for the nearly 94 million Americans living with high cholesterol. 

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Dr. Ernest Mazzaferri, Jr. checks the heart rate of Marcus Wright at The Ohio State University Wexner Medical Center. Mazzaferri enlisted the help of genetic scientists to get to the bottom of Wright’s unexplained coronary artery disease.

Clinicians at The Ohio State University Wexner Medical Center collaborate with their counterparts in the lab to solve unexplained medical cases through genetic research. Their latest research discovered genetic mutations that affect how good cholesterol functions, prompting the development of potential new treatments.

Sara Koenig, right, assistant professor of Internal Medicine at The Ohio State University College of Medicine, conducts lab testing with a colleague. Koenig and her team of researchers discovered rare genetic mutations that prevent good cholesterol from clearing bad cholesterol from the body.

After prescribing a variety of medications that helped manage Marcus Wright’s severe coronary artery disease, Dr. Ernest Mazzaferri, Jr., right, referred him to a team of genetic scientists at The Ohio State University Wexner Medical Center to help determine the cause of his advanced disease.

Sara Koenig, right, and her team of researchers at The Ohio State University Wexner Medical Center are working on developing a new therapeutic treatment that could improve the efficiency of how good cholesterol functions. This prospective new treatment could help millions of Americans living with high cholesterol.



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