Desmin: a major intermediate filament protein essential for the structural integrity and function of muscle

Exp Cell Res. 2004 Nov 15;301(1):1-7. doi: 10.1016/j.yexcr.2004.08.004.


Desmin is a muscle-specific protein and a key subunit of the intermediate filament in cardiac, skeletal and smooth muscles. Desmin filaments are mainly located at the periphery of Z-disk of striated muscles and at the dense bodies of smooth muscle cells, and they have been postulated to play a critical role in the maintenance of structural and mechanical integrity of the contractile apparatus in muscle tissues. This review summarizes the findings in the regulation of the desmin gene and function of the desmin protein. The expression of desmin gene is regulated by a combination of different transcription control regions in muscle cells. The results from mice deficient in desmin reveal the fundamental role of desmin filaments in cell architecture, force transmission and mitochondrial function. Mice lacking desmin postnatally develop a dilated cardiomyopathy, a skeletal myopathy and smooth muscle defects. Some of desmin-related myopathies are attributable to a missense mutations and deletions in the desmin gene. Other desmin-related myopathies, in which the desmin gene is not mutated, could be related to mutations of the genes encoding the proteins that interact with desmin.

Publication types

  • Review

MeSH terms

  • Animals
  • Desmin / physiology*
  • Gene Expression Regulation / physiology
  • Humans
  • Mice
  • Muscle, Skeletal / metabolism*
  • Muscle, Smooth / metabolism*
  • Muscular Diseases / metabolism*
  • Muscular Diseases / pathology


  • Desmin