Research Articles

Dystrophin expression in muscles of duchenne muscular dystrophy patients after high-density injections of normal myogenic cells.

The transplantation of myoblasts obtained from a healthy donor is a potential treatment of Duchenne muscular dystrophy (DMD). Following intramuscular injection, donor myoblasts can fuse with the myofibers of the patient and introduce the normal dystrophin gene. In a previous Phase 1A clinical trial, (Dystrophin expression in muscles of DMD patients after high-density injections of normal myogenic cells, https://www.ncbi.nlm.nih.gov/pubmed/16691118?dopt=Abstract) the investigators showed that transplantation of myoblasts grown from the muscle biopsy of a healthy donor introduced the normal dystrophin gene in the DMD myofibers, with the consequent expression of the normal dystrophin mRNA and restoration of the dystrophin protein in several myofibers.

Impaired functional communication between the L-type calcium channel and mitochondria contributes to metabolic inhibition in the mdx heart

Duchenne muscular dystrophy is a fatal X-linked disease characterized by the absence of dystrophin. Approximately 20% of boys will die of dilated cardiomyopathy that is associated with cytoskeletal protein disarray, contractile dysfunction, and reduced energy production. However, the mechanisms for altered energy metabolism are not yet fully clarified. Calcium influx through the L-type Ca2+ channel is critical for maintaining cardiac excitation and contraction. The L-type Ca2+ channel also regulates mitochondrial function and metabolic activity via transmission of movement of the auxiliary beta subunit through intermediate filament proteins.

Sarepta Therapeutics Reports Long-Term Outcomes Through 144 Weeks from Phase IIb Study of Eteplirsen in Duchenne Muscular Dystrophy

Sarepta Therapeutics, Inc. (NASDAQ:SRPT), a developer of innovative RNA-based therapeutics, today announced data through Week 144 from Study 202, a Phase IIb open-label extension study of eteplirsen in patients with Duchenne muscular dystrophy (DMD). After nearly three years of follow up, results on the 6-minute walk test (6MWT) showed a decline in walking ability at a rate slower than would be expected based on available DMD natural history data.