Desmin-related myopathies in mice and man

摘要: Desmin, the main intermediate filament (IF) protein in skeletal and heart muscle cells, is of great importance as a part cytoskeleton. The IFs surround interlink myofibrils, connect peripheral myofibrils with sarcolemma. In myotendinous junctions neuromuscular fibres, desmin enriched. heart, increased at intercalated discs, attachment between cardiomyocytes, it component Purkinje fibres conduction system. Desmin first muscle-specific to appear during myogenesis. Nevertheless, lack desmin, shown from experiments knockout (K/O) mice, does not influence myogenesis or myofibrillogenesis. However, knock-out mice postnatally develop cardiomyopathy dystrophy highly used muscles. other muscles organization remarkably unaffected. Thus, consequence that become more susceptible damage. loss membrane integrity leads dystrophic process, degeneration fibrosis. cardiac failure develops, whereas affected regenerative attempts are seen. humans, accumulations have been hallmark for presumptive myopathies. Recent investigations some families such myopathy defect gene coding alphaB-crystallin, others mutations gene. Typical features these patients affections weakness. pathogenic distinct type disorder.