Autophagy in desmin-related cardiomyopathy: Thoughts at the halfway point

 Abstract

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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PMID: 21493898 DOI: 10.1161/CIRCRESAHA.1

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Pages
665 - 666
doi
10.4161/auto.6.5.12422
Type
Autophagic Punctum
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Autophagy in desmin-related cardiomyopathy: Thoughts at the halfway point