Dysferlinopathies are caused by mutations in the DYSF gene. Dysferlin is a protein mainly expressed in skeletal muscle and monocytes. Cell therapy constitutes a promising tool for the treatment of muscular dystrophies. The aim of this study was to evaluate the effect of bone marrow transplantation (BMT) using the A/J Dysfprmd mouse model of dysferlinopathy. For that purpose, dysferlin expression by Western blot and/or immunohistochemistry in transplanted mice and controls was examined. Computerized analysis of locomotion and electrophysiological techniques were also performed to test functional improvement. Dysferlin was expressed in splenocytes but not in the skeletal muscle of the transplanted mice. However, locomotion test, electromyography studies and muscle histology showed an improvement in all transplanted mice that was more significant in the animals transplanted with dysferlin+/+ cells. In conclusion, although BMT restores dysferlin expression in monocytes but not in skeletal muscle, muscle function was partially recovered. The slight improvement observed in the functional studies could be related with factors, such as hepatocyte growth factor, released after BMT that prevented muscle degeneration.
