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Desminopathies: pathology and mechanisms.

Christoph S Clemen1, Harald Herrmann, Sergei V Strelkov

  • 1Institute of Biochemistry I, Medical Faculty, University of Cologne, Joseph-Stelzmann-Street 52, 50931 Cologne, Germany. christoph.clemen@uni-koeln.de

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Desmin mutations cause progressive muscle diseases (desminopathies) affecting cytoskeleton structure and function. Current treatments are unavailable, highlighting the need for further research into desmin

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Area of Science:

  • Muscle Biology
  • Cellular Cytoskeleton
  • Genetic Diseases

Background:

  • Desmin is a crucial intermediate filament protein in the muscle cell cytoskeleton, vital for myofibril alignment and organelle positioning.
  • Mutations in the desmin gene (DES) lead to desminopathies, a group of inherited muscle disorders with diverse clinical presentations.
  • These disorders exhibit progressive muscle weakness and cardiomyopathy, with no effective treatments currently available.

Purpose of the Study:

  • To review current knowledge on the epidemiology, clinical features, pathology, and genetics of desminopathies.
  • To provide a comprehensive overview of desmin's structure, function, and the impact of mutations.
  • To explore desmin-related cell and animal models for understanding disease mechanisms.

Main Methods:

  • Literature review of published research on desmin and desminopathies.
  • Analysis of data on desmin expression, filament formation, and biomechanical properties.
  • Examination of studies on desmin interactions, post-translational modifications, and cellular localization.

Main Results:

  • Desminopathies present with significant phenotypic variability, affecting individuals from childhood to adulthood.
  • Muscle pathology includes desmin aggregates and myofibrillar degeneration, indicating disrupted cytoskeletal integrity.
  • Mutant desmin impacts protein interactions, signaling pathways, mitochondrial function, and protein quality control.

Conclusions:

  • Desminopathies are complex disorders arising from disruptions in the desmin intermediate filament network and associated cellular processes.
  • Understanding the multifaceted roles of desmin and the consequences of its mutations is critical for developing therapeutic strategies.
  • Further research into desmin biology and disease models is essential for advancing treatment options for these debilitating muscle diseases.