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.
G Seebohm, N Strutz-Seebohm, ON Ureche, U Henrion, R Baltaev, AF Mack, G Korniychuk, K Steinke, D Tapken, A Pfeufer, S Kääb, C Bucci, B Attali, J Merot, JM Tavare, UC Hoppe, MC Sanguinetti, F Lang. Long QT syndrome-associated mutations in KCNQ1 and KCNE1 subunits disrupt normal endosomal recycling of IKs channels. Circ Res 2008; 103: 1451- 7.
PMID: 21493898 DOI: 10.1161/CIRCRESAHA.1