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Biomechanical characterization of myofibrillar myopathies
Author(s) -
Winter Lilli,
Goldmann Wolfgang H.
Publication year - 2015
Publication title -
cell biology international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.932
H-Index - 77
eISSN - 1095-8355
pISSN - 1065-6995
DOI - 10.1002/cbin.10384
Subject(s) - plectin , desmin , myofibril , filamin , myopathy , myocyte , microbiology and biotechnology , biology , medicine , genetics , pathology , intermediate filament , cytoskeleton , cell , vimentin , immunohistochemistry
Myofibrillar myopathies (MFMs) are a group of sporadic and hereditary skeletal muscle diseases, which lead to severe physical disability and premature death. Most MFMs are caused by mutations in genes encoding desmin, plectin, VCP, filamin C, BAG3, FHL‐1, αB‐crystallin, DNAJB6, myotilin, and ZASP. Biomechanical studies on primary human myoblasts carrying desmin and plectin mutations showed increased stiffness and reduced mechanical stress tolerance i.e., higher mechanical vulnerability compared to control cells. Higher stiffness of mutant cells may lead to higher intracellular stress at physiologic stretch and shear deformation, which in turn could trigger muscle fiber degeneration.