Introduction to muscular dystrophy

JD Porter - Microscopy research and technique, 2000 - Wiley Online Library
JD Porter
Microscopy research and technique, 2000Wiley Online Library
This special issue of Microscopy Research and Technique is devoted to the topic of
muscular dystrophy. The muscular dystrophies are heritable, primary muscle disorders,
which involve axial and/or appendicular musculature. The pattern of histological alterations
associated with muscular dystrophy is diagnostic, a consequence of cyclic degeneration and
regeneration of skeletal muscle (although cardiac and smooth muscle also may be
involved). Muscle degeneration is typically progressive, with an apparent increase in …
This special issue of Microscopy Research and Technique is devoted to the topic of muscular dystrophy. The muscular dystrophies are heritable, primary muscle disorders, which involve axial and/or appendicular musculature. The pattern of histological alterations associated with muscular dystrophy is diagnostic, a consequence of cyclic degeneration and regeneration of skeletal muscle (although cardiac and smooth muscle also may be involved). Muscle degeneration is typically progressive, with an apparent increase in severity as connective tissue accumulates and the intrinsic regenerative capacity of muscle becomes exhausted. The diagnosis of muscular dystrophy, at best, means a life of overcoming diminished movement capacity, and, at worst, leads to more than a decade of progressive muscle wasting and an all too early death. This devastating class of neuromuscular disorders has attracted much attention from both basic science and clinical research communities. In the 13 years since the discovery that dystrophin represents the key protein missing in Duchenne muscular dystrophy (Hoffman et al., 1987), studies have linked genetic disease loci to protein products to cellular phenotypes, thereby generating testable models of the pathogenesis of the dystrophies. Many types of muscular dystrophy are now known to result from the disruption of an oligomeric protein complex in the muscle fiber membrane, or sarcolemma. But it still remains unclear precisely how the absence of these specific sarcolemmal proteins leads to muscle fiber death and there is, as yet, no adequate therapy for any of the muscular dystrophies. This special journal issue assembles a knowledgeable set of reviews that relate the current status of concepts and technologies in the field of muscular dystrophy. The common themes are the determination of the location, interrelationships, and functional roles of the proteins affected in the various muscular dystrophies and study of the means by which the absence of these proteins leads to myofiber death. The series of articles concludes with a hopeful look to the future, conveying insights into progress in the most promising therapeutic approaches.
Wiley Online Library