Molecular Genetics and Epidemiology of Cardiac Disease
Dr. Mark Keating applied the tools of molecular biology to human inherited diseases affecting the cardiovascular system. He has identified several genes that cause the long QT syndrome, a disorder that causes sudden death from cardiac arrhythmias. He and Dr. Dean Li recently identified mutations in the elastin gene as causing a vascular disease known as supravalvular aortic stenosis. Dr. Dean Li is studying the role of elastin in vascular biology. Dr. Jean-Marc Lalouel has applied the tools of molecular genetics and epidemiology to identify genes that are important in common disorders like hypertension, hyperlipidemia, and atherosclerosis.
Recently, these investigators demonstrated that mutations in the angiotensinigen gene are important in the pathogenesis of essential hypertension. James Metherall, Ph.D., uses the techniques of molecular and cellular biology to identify genes that regulate cholesterol metabolism. Given the known relationship between elevated serum cholesterol levels and atherogenesis, it is likely that this work will affect clinical practice.
