Hypertrophic cardiomyopathy (HCM) is the most common genetic disease of the heart and a leading cause of sudden cardiac death in young people and athletes. Scientists have long known that the condition’s cardinal feature—an unusually thick heart muscle that contracts and relaxes abnormally — is fuelled by some glitch in the heart’s molecular machinery. Yet, the precise spark plug that ignites such disordered muscle movement has thus far remained unknown.
Now a new study in Science Translational Medicine has pinpointed a faulty molecular brake that fuels disease development and identified a candidate compound that restores heart muscle function in human and mouse cells.
Read more (Radcliffe Department of Medicine website)