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Desmin in muscle and associated diseases: beyond the structural function

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Abstract

Desmin is a muscle-specific type III intermediate filament essential for proper muscular structure and function. In human, mutations affecting desmin expression or promoting its aggregation lead to skeletal (desmin-related myopathies), or cardiac (desmin-related cardiomyopathy) phenotypes, or both. Patient muscles display intracellular accumulations of misfolded proteins and desmin-positive insoluble granulofilamentous aggregates, leading to a large spectrum of molecular alterations. Increasing evidence shows that desmin function is not limited to the structural and mechanical integrity of cells. This novel perception is strongly supported by the finding that diseases featuring desmin aggregates cannot be easily associated with mechanical defects, but rather involve desmin filaments in a broader spectrum of functions, such as in organelle positioning and integrity and in signaling. Here, we review desmin functions and related diseases affecting striated muscles. We detail emergent cellular functions of desmin based on reported phenotypes in patients and animal models. We discuss known desmin protein partners and propose an overview of the way that this molecular network could serve as a signal transduction platform necessary for proper muscle function.

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Acknowledgment

We thank Pr. Denise Paulin for her helpful suggestions and comments on the manuscript.

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Authors and Affiliations

  1. Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France

    Karim Hnia, Caroline Ramspacher, Julien Vermot & Jocelyn Laporte

  2. Centre National de la Recherche Scientifique, UMR7104, Illkirch, France

    Karim Hnia, Caroline Ramspacher, Julien Vermot & Jocelyn Laporte

  3. Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France

    Karim Hnia, Caroline Ramspacher, Julien Vermot & Jocelyn Laporte

  4. Université de Strasbourg, Illkirch, France

    Karim Hnia, Caroline Ramspacher, Julien Vermot & Jocelyn Laporte

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  1. Karim Hnia
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  2. Caroline Ramspacher
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  3. Julien Vermot
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  4. Jocelyn Laporte
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Correspondence to Karim Hnia or Jocelyn Laporte.

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Karim Hnia and Caroline Ramspacher contributed equally to this work.

This work is supported by INSERM, CNRS, UDS (University of Strasbourg) and AFM (Association Française Contre la Myopathy).

The authors declare no conflicts of interest.

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Hnia, K., Ramspacher, C., Vermot, J. et al. Desmin in muscle and associated diseases: beyond the structural function. Cell Tissue Res 360, 591–608 (2015). https://doi.org/10.1007/s00441-014-2016-4

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