title: Desmin related disease: a matter of cell survival failure.
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.
authors: Center of Basic Research, Biomedical Research Foundation, Academy of Athens, Athens 11527, Greece. Electronic address: ycapetanaki@bioacademy.gr.
authors: Yassemi
authors: Y
authors: Capetanaki
authors: Center of Basic Research, Biomedical Research Foundation, Academy of Athens, Athens 11527, Greece.
authors: Stamatis
authors: S
authors: Papathanasiou
authors: Center of Basic Research, Biomedical Research Foundation, Academy of Athens, Athens 11527, Greece.
authors: Antigoni
authors: A
authors: Diokmetzidou
authors: Center of Basic Research, Biomedical Research Foundation, Academy of Athens, Athens 11527, Greece.
authors: Giannis
authors: G
authors: Vatsellas
authors: Center of Basic Research, Biomedical Research Foundation, Academy of Athens, Athens 11527, Greece.
authors: Mary
authors: M
authors: Tsikitis
mesh_terms: D000818:Animals; D016923:Cell Death; D002462:Cell Membrane / Q000378:metabolism; D003593:Cytoplasm / Q000378:metabolism; D003599:Cytoskeleton / Q000378:metabolism; D003893:Desmin / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D007382:Intermediate Filaments / Q000378:metabolism; D008928:Mitochondria / Q000378:metabolism; D054792:Muscle, Striated / Q000166:cytology* / Q000378:metabolism; D009135:Muscular Diseases / Q000473:pathology*; D009154:Mutation; D011499:Protein Processing, Post-Translational
chemical_list: D003893:Desmin