Cardiac-specific ablation of Cypher leads to a severe form of dilated cardiomyopathy with premature death

Hum Mol Genet. 2009 Feb 15;18(4):701-13. doi: 10.1093/hmg/ddn400. Epub 2008 Nov 21.

Abstract

Accumulating data suggest a link between alterations/deficiencies in cytoskeletal proteins and the progression of cardiomyopathy and heart failure, although the molecular basis for this link remains unclear. Cypher/ZASP is a cytoskeletal protein localized in the sarcomeric Z-line. Mutations in its encoding gene have been identified in patients with isolated non-compaction of the left ventricular myocardium, dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy. To explore the role of Cypher in myocardium and to better understand molecular mechanisms by which mutations in cypher cause cardiomyopathy, we utilized a conditional approach to knockout Cypher, specially in either developing or adult myocardium. Cardiac-specific Cypher knockout (CKO) mice developed a severe form of DCM with disrupted cardiomyocyte ultrastructure and decreased cardiac function, which eventually led to death before 23 weeks of age. A similar phenotype was observed in inducible cardiac-specific CKO mice in which Cypher was specifically ablated in adult myocardium. In both cardiac-specific CKO models, ERK and Stat3 signaling pathways were augmented. Finally, we demonstrate the specific binding of Cypher's PDZ domain to the C-terminal region of both calsarcin-1 and myotilin within the Z-line. In conclusion, our studies suggest that (i) Cypher plays a pivotal role in maintaining adult cardiac structure and cardiac function through protein-protein interactions with other Z-line proteins, (ii) myocardial ablation of Cypher results in DCM with premature death and (iii) specific signaling pathways participate in Cypher mutant-mediated dysfunction of the heart, and may in concert facilitate the progression to heart failure.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Animals
  • Cardiomyopathy, Dilated / genetics
  • Cardiomyopathy, Dilated / metabolism
  • Cardiomyopathy, Dilated / mortality*
  • Cardiomyopathy, Dilated / physiopathology
  • Carrier Proteins / chemistry
  • Carrier Proteins / genetics*
  • Carrier Proteins / metabolism
  • Cell Line
  • Disease Models, Animal
  • Heart / physiopathology
  • Homeodomain Proteins / chemistry
  • Homeodomain Proteins / genetics*
  • Homeodomain Proteins / metabolism
  • Humans
  • LIM Domain Proteins
  • Mice
  • Mice, Knockout
  • Microfilament Proteins
  • Mortality
  • Muscle Proteins / genetics
  • Muscle Proteins / metabolism
  • Mutation
  • Myocardium / metabolism
  • Protein Binding

Substances

  • Adaptor Proteins, Signal Transducing
  • Carrier Proteins
  • Homeodomain Proteins
  • LIM Domain Proteins
  • Ldb3 protein, mouse
  • Microfilament Proteins
  • Muscle Proteins
  • Myot protein, mouse
  • Myoz2 protein, mouse