Why do mutations in dysferlin cause muscle weakness?
Not much is known about this question. Recently, studies have shown that the dysferlin protein is involved in repair of the cellular membrane. Because muscle fibers repeatedly stretch and contract, they develop small tears in their outer membranes that must be repaired. Muscle is also a regenerative tissue, and muscle cells fuse together to form fibers throughout life. Both of these processes require restructuring of the cellular membrane. It is not known exactly how dysferlin participates in these processes, or which process is most affected by a lack of dysferlin. Understanding the biological role of dysferlin, and the problems which result from its absence, is a high priority in current research into LGMD2B/Miyoshi.
