Novel treatments under development for muscular dystrophy.
Extract: There is no specific therapy for the muscular dystrophies, a group of genetic diseases that affect primarily skeletal muscle and compromise patients' quality of life and, in the most severe forms, their survival. New results coming from gene and cell therapy, as well as novel strategies aimed at preventing or delaying muscle degeneration, have raised hopes that clinical experimentation may start in the near future. Muscular dystrophies (MD) primarily affect the skeletal muscle. They are clinically and molecularly diverse and, in the most severe forms, such as Duchenne Muscular Dystrophy (DMD), lead the patient to wheelchair dependency, respiratory failure and premature death. In many cases, the mutation impairs genes that encode proteins forming a complex that links the cytoskeleton to the basal membrane, a collagen scaffold in which cells are embedded. Mutation in one of these proteins often causes a breakdown of the whole complex, leading to an increased fragility of the membrane, especially during intense contractile activity. This, in turn, results in increased calcium entry and subsequently focal or diffuse damage to the muscle fiber.
Cossu
Giulio
G
Stem Cell Research Institute, Dibit, H. San Raffaele, 58 Via Olgettina, 20132 Milan, Italy.
Sampaolesi
Maurilio
M