Malignant familial hypertrophic cardiomyopathy D166V mutation in the ventricular myosin regulatory light chain causes profound effects in skinned and intact papillary muscle fibers from transgenic mice

FASEB J. 2009 Mar;23(3):855-65. doi: 10.1096/fj.08-118182. Epub 2008 Nov 5.

Abstract

Transgenic (Tg) mice expressing approximately 95% of the D166V (aspartic acid to valine) mutation in the ventricular myosin regulatory light chain (RLC) shown to cause a malignant familial hypertrophic cardiomyopathy (FHC) phenotype were generated, and the skinned and intact papillary muscle fibers from the Tg-D166V mice were examined using a Guth muscle research system. A large increase in the Ca(2+) sensitivity of force and ATPase (Delta pCa(50)>0.25) and a significant decrease in maximal force and ATPase were observed in skinned muscle fibers from Tg-D166V mice compared with control mice. The cross-bridge dissociation rate g was dramatically decreased, whereas the energy cost (ATPase/force) was slightly increased in Tg-D166V fibers compared with controls. The calculated average force per D166V cross-bridge was also reduced. Intact papillary muscle data demonstrated prolonged force transients with no change in calcium transients in Tg-D166V fibers compared with control fibers. Histopathological examination revealed fibrotic lesions in the hearts of the older D166V mice. Our results suggest that a charge effect of the D166V mutation and/or a mutation-dependent decrease in RLC phosphorylation could initiate the slower kinetics of the D166V cross-bridges and ultimately affect the regulation of cardiac muscle contraction. Profound cellular changes observed in Tg-D166V myocardium when placed in vivo could trigger a series of pathological responses and result in poor prognosis for D166V-positive patients.

Publication types

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

MeSH terms

  • Adenosine Triphosphatases / metabolism
  • Animals
  • Calcium / metabolism
  • Cardiomyopathy, Hypertrophic, Familial / genetics*
  • Energy Metabolism
  • Gene Expression Regulation
  • Humans
  • Mice
  • Mice, Transgenic
  • Models, Molecular
  • Mutation
  • Myocardial Contraction / genetics
  • Myocardial Contraction / physiology
  • Myocardium / metabolism
  • Myosin Light Chains / genetics*
  • Myosin Light Chains / metabolism
  • Myosins / metabolism
  • Papillary Muscles / physiology*
  • Phosphorylation
  • Protein Conformation

Substances

  • Myosin Light Chains
  • Adenosine Triphosphatases
  • Myosins
  • Calcium