Cardiovascular Disease

We are currently taking two major approaches to identifying genes which are significant contributors to cardiovascular disease. One approach involves population based association studies in which we are testing the association of specific SNP genotypes and haplotypes to cardiovascular disease and associated phenotypes. The second approach involves proteomic analysis in a mouse model system. These studies currently focus on a mouse model for the cardiac pathology observed in myotonic dystrophy, We have utilized a proteomic approach including two dimensional gel electrophoresis and mass spectrometry to identify polypeptides which are altered in mobility in the hearts of mice deficient in the DMPK protein kinase, a gene whose expression is compromised in myotonic dystrophy and whose absence causes significant cardiac pathology in mice which lack this kinase. The goal of these studies is to determine the pathway to cardiac pathology which begins with the absence of function of the DMPK kinase and through this understanding elucidate the signaling pathways involving the DMPK kinase. A further goal is to generalize this approach to other mouse models of cardiac pathology.