Dysferlin and the membrane repair team

Dr Sandra Cooper (Team leader), Dr Alison Compton (Postdoctoral scientists), Harriet Lo (PhD student), Frances Evesson (Research assistant)

Many forms of muscular dystrophy are associated with a structural fragility of the muscle membrane, whereby membrane damage exceeds the ability of muscle to repair itself, resulting in the progressive degeneration of muscle fibres. We are studying a new form of muscular dystrophy, caused by mutations in the gene dysferlin. Rather than having a structural role, dysferlin has recently been shown to play a role in repairing the small sites of membrane damage caused through normal physical activity. In dysferlin patients, the structure of the membrane is normal, but membrane repair is impaired.

Our project seeks to more clearly define the role of dysferlin in skeletal muscle, and to study other proteins that interact with dysferlin and/or contribute to the muscle repair pathway. There are many patients with muscular dystrophy, in whom the genetic cause is unknown. We believe that some of these patients may have defects in other proteins that are also involved in the muscle repair process.

We have a group of patients with dysferlin muscular dystrophy, and a group of forty patients who may be defective in other components of the membrane repair pathway. We will use muscle samples and muscle cell lines to firstly define more about the normal biology of dysferlin, and then use our patient samples to examine what happens to the muscle membrane repair process when there is a mutation in dysferlin.

Selected Publications

Cooper ST, Lo HP, North KN. Single Section Western Blot: New possibilities for the diagnosis of muscular dystrophies. Neurology. 2003, 61:93-97.