Open AccessManipulation of Death Pathways in Desmin-Related Cardiomyopathy
Author(s) -
Alina Maloyan,
Jennifer Sayegh,
Hanna Osińska,
Balvin H.L. Chua,
Jeffrey Robbins
Publication year - 2010
Publication title -
circulation research
Language(s) - English
Resource type - Journals
eISSN - 1524-4571
pISSN - 0009-7330
DOI - 10.1161/circresaha.109.212639
Subject(s) - genetically modified mouse , desmin , apoptosis , autophagy , transgene , cardiomyopathy , downregulation and upregulation , programmed cell death , biology , mitochondrion , necrosis , cancer research , microbiology and biotechnology , myocyte , heart failure , medicine , immunohistochemistry , genetics , gene , vimentin
Accumulation of protein aggregates is a hallmark of several neurodegenerative disorders as well as for a number of protein conformation-based diseases, including those affecting muscle, liver and heart. Desminopathy or desmin-related myopathy (DRM) is a skeletal myopathy characterized by bilateral muscle weakness, but is often accompanied by cardiomyopathy as well. DRM can be caused by mutations in desmin, alphaB crystallin, myotilin, Z-band alternatively spliced PDZ-containing protein (ZASP), filamin C (FLNC) or Bcl-2-associated athanogene-3 (BAG3). The common pathological pattern in DRM is accumulation of misfolded proteins, however, clinical manifestations can differ significantly.
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