Cardiac myosin light chain-2: a novel essential component of thick-myofilament assembly and contractility of the heart

Circ Res. 2006 Aug 4;99(3):323-31. doi: 10.1161/01.RES.0000234807.16034.fe. Epub 2006 Jun 29.

Abstract

Although it is well known that mutations in the cardiac regulatory myosin light chain-2 (mlc-2) gene cause hypertrophic cardiomyopathy, the precise in vivo structural and functional roles of MLC-2 in the heart are only poorly understood. We have isolated a mutation in zebrafish, tell tale heart (tel(m225)), which selectively perturbs contractility of the embryonic heart. By positional cloning, we identified tel to encode the zebrafish mlc-2 gene. In contrast to mammals, zebrafish have only 1 cardiac-specific mlc-2 gene, which we find to be expressed in atrial and ventricular cardiomyocytes during early embryonic development, but also in the adult heart. Accordingly, loss of zMLC-2 function cannot be compensated for by upregulation of another mlc-2 gene. Surprisingly, ultrastructural analysis of tel cardiomyocytes reveals complete absence of organized thick myofilaments. Thus, our findings provide the first in vivo evidence that cardiac MLC-2 is required for thick-filament stabilization and contractility in the vertebrate heart.

Publication types

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

MeSH terms

  • Animals
  • Cardiac Myosins / metabolism
  • Cardiac Myosins / physiology*
  • Embryo, Nonmammalian
  • Heart / embryology
  • Heart / growth & development*
  • Heart / physiology*
  • Heart Atria / cytology
  • Heart Ventricles / cytology
  • Muscle Development*
  • Mutation
  • Myocardial Contraction*
  • Myosin Light Chains / metabolism
  • Myosin Light Chains / physiology*
  • Phosphorylation
  • Zebrafish

Substances

  • Myosin Light Chains
  • myosin light chain 2
  • Cardiac Myosins