DESMIN-RELATED NEUROMUSCULAR DISORDERS

Desmin, the intermediate filament protein of skeletal muscle fibers, cardiac myocytes, and certain smooth muscle cells, is a member of the cytoskeleton linking Z-bands with the plasmalemma and the nucleus. The pathology of desmin in human neuromuscular disorders is always marked by increased amounts, diffusely or focally. Desmin is highly expressed in immature muscle fibers, both during fetal life and regeneration as well as in certain congenital myopathies, together with vimentin. Desmin is also enriched in neonatal myotonic dystrophy and small fibers in infantile spinal muscular atrophy. Focal accretion of desmin may be twofold, in conjunction with certain inclusion bodies, cytoplasmic and spheroid bodies, and in a more patchy fashion, granulofilamentous material. Both lesions have been found in certain families, affected by a myopathy and/or cardiomyopathy, Other proteins, e,g., dystrophin, vimentin, actin, ubiquitin, and alpha-B crystallin, may also be overexpressed. Desmin pathology may be genetically regulated or may merely reflect profoundly impaired metabolism of several proteins within myofibers. (C) 1995 John Wiley & Sons, Inc.