A joint study conducted by I-Stem, Genethon and the Institute of Myology reveals the positive effects of two drugs—saracatinib and bazedoxifene—on muscle cell models of dysferlin-related limb-girdle muscular dystrophy type R2. This opens up a novel research avenue.
Limb-girdle muscular dystrophy type R2 (LGMD R2), caused by mutations in the DYSF gene, results from a complete or partial absence, or a dysfunction, of the dysferlin protein. Normally located at the membrane (or sarcolemma) of muscle cells, this protein plays a crucial role in maintaining sarcolemma stability and enabling muscle fibers to withstand mechanical stress.
Teams from I-Stem and Genethon, led by Xavier Nissan and Isabelle Richard, in collaboration with the Institute of Myology, set out to determine whether known molecules with established benefits in other diseases could help relocalize defective dysferlin to the membrane and thereby enhance the resilience of muscle cell models of LGMD R2.
