Desmin in muscle and associated diseases: beyond the structural function.

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.

journal_name

Cell Tissue Res

journal_title

Cell and tissue research

authors

Hnia K,Ramspacher C,Vermot J,Laporte J

doi

10.1007/s00441-014-2016-4

subject

Has Abstract

pub_date

2015-06-01 00:00:00

pages

591-608

issue

3

eissn

0302-766X

issn

1432-0878

journal_volume

360

pub_type

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