Desmin Related Disease: a Matter of Cell Survival Failure

Overview

Journal Curr Opin Cell Biol

Publisher Elsevier

Specialty Cell Biology

Date 2015 Feb 14

PMID 25680090

Citations 59

Authors

Yassemi Capetanaki

Stamatis Papathanasiou

Antigoni Diokmetzidou

Giannis Vatsellas

Mary Tsikitis

Affiliations

Soon will be listed here.

Abstract

Maintenance of the highly organized striated muscle tissue requires a cell-wide dynamic network that through interactions with all vital cell structures, provides an effective mechanochemical integrator of morphology and function, absolutely necessary for intra-cellular and intercellular coordination of all muscle functions. A good candidate for such a system is the desmin intermediate filament cytoskeletal network. Human desmin mutations and post-translational modifications cause disturbance of this network, thus leading to loss of function of both desmin and its binding partners, as well as potential toxic effects of the formed aggregates. Both loss of normal function and gain of toxic function are linked to mitochondrial defects, cardiomyocyte death, muscle degeneration and development of skeletal myopathy and cardiomyopathy.

Citing Articles

Acute resistance exercise and training reduce desmin phosphorylation at serine 31 in human skeletal muscle, making the protein less prone to cleavage.

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Natural History, Phenotype Spectrum and Clinical Outcomes of Desmin ()-Associated Cardiomyopathy.

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