Scientists Discover Heart Disease Gene
Cardiovascular disease is the leading cause of death in men and women throughout the world. Although lifestyle factors—diet, exercise, and smoking, for example—are known to play a role in heart disease risk, genetics are also important, and researchers at the University of Maryland School of Medicine have now discovered a specific gene mutation that leads to an irregular heartbeat, increasing the risk for heart disease.
Results of the recent animal study were published in Science Advances. According to researchers, a gene called OBSCN produces proteins known as obscurins, which are critical to many physiologic processes—including heart function. Mutations of this gene are believed to play a role in heart disease and cancer risk.
For the study, researchers focused on a specific mutation associated with an enlarged heart—a condition called hypertrophic cardiomyopathy in which heart muscle becomes thick and scarred and can no longer pump blood efficiently. They divided mice with the mutation into three groups: one that experienced no stress, one that experienced moderate stress, and one that experienced significant stress. Animals without stress developed an irregular heartbeat, and mildly stressed and severely stressed animals developed hypertrophic cardiomyopathy.