Muscular Dystrophy Award funded by Colin Gordon Munro Estate
Muscular dystrophy and membrane repair.
Dr Sandra Cooper
The Children’s Hospital at Westmead and University of Sydney
Co-Investigator: Professor Kathryn North
Dysferlin is a muscle membrane protein that is mutated in a form of inherited muscular dystrophy. Dysferlin has been shown to be essential for muscle cells to repair acute damage to their surface membrane, and is the first identified component of membrane repair machinery. We have been studying the biology of dysferlin in muscle cells; where it goes, how it behaves, and exactly what role it plays in muscle membrane repair. Dysferlin has many calcium-binding domains, and is thought to play a key role in the calcium-activated fusion of vesicle ‘patches’ that seal off membrane lesions. Using dysferlin as the key, we want to unlock the molecular steps required to survive a membrane injury. We have developed novel assays to test therapies that improve recovery from membrane injuring events. Our goal is to understand membrane resealing, and learn how to improve cell survival from membrane injury for therapeutic treatment of neuromuscular disease, and of other conditions characterised by membrane damage and repair, such as surgery, injury, cardiac ischaemia and stroke.