Project 9 - Skeletal muscle metabolism in patients with caveolopathies

Principal investigators
Michael Boschmann, MD and Ulrich Kintscher, MD, Prof
Caveolae are specialized cell-membrane domains that maintain integrity, trafficking, and signal transduction. In muscle, important proteins for caveolar structure and function are caveolin 3 and cavin1/ptrf. Patients lacking caveolae have rippling muscle, muscular dystrophy, lipodystrophy and cardiac conduction defects. Cav-3 knockout mice are insulin resistant, have decreased glucose uptake in skeletal muscle, exhibit impaired glucose tolerance, and have increased serum lipids. Cav-3 is also a binding partner of the b2-adrenergic receptor, suggesting an important role in catecholamine-induced lipolysis. None of these features have been studied comprehensively in man. We will study the role of insulin signaling and lipid metabolism in caveolinopathies in vivo and in vitro.