New Discovery of Rare Genetic Mutations Could Lead to New Cholesterol Treatment

Sara Koenig, Ph.D., assistant professor of physiology and cell biology at The Ohio State University College of Medicine, discusses a discovery of rare genetic mutations that affect good cholesterol. Through a unique clinician-scientist collaboration program, Ohio State researchers used genetic testing to solve the medical mystery of a healthy, active man who suffered a heart attack in his 20s and continued to have heart-related problems. They discovered a rare genetic mutation that had never been identified before and that it was preventing good cholesterol from effectively clearing out bad cholesterol, leading to advanced coronary artery disease. Now, researchers have identified certain drugs that promote a healthy HDL function and are working to develop a new therapeutic drug that could provide an alternative treatment option for millions of Americans with high cholesterol.

Sara Koenig, PhD, is an assistant professor of Internal Medicine at The Ohio State University College of Medicine and director of COVID-19 advanced technologies. Her research program combines human genetics with animal and cell culture models to investigate 1) how defects in metabolism cause pediatric sudden cardiac death, 2) manipulation of high density lipoprotein for prevention of coronary artery disease, and 3) alternative splicing in cardiac arrhythmia.