Generation and functional characterization of knock-in mice harboring the cardiac troponin I-R21C mutation associated with hypertrophic cardiomyopathy

J Biol Chem. 2012 Jan 13;287(3):2156-67. doi: 10.1074/jbc.M111.294306. Epub 2011 Nov 15.

Abstract

The R21C substitution in cardiac troponin I (cTnI) is the only identified mutation within its unique N-terminal extension that is associated with hypertrophic cardiomyopathy (HCM) in man. Particularly, this mutation is located in the consensus sequence for β-adrenergic-activated protein kinase A (PKA)-mediated phosphorylation. The mechanisms by which this mutation leads to heart disease are still unclear. Therefore, we generated cTnI knock-in mouse models carrying an R21C mutation to evaluate the resultant functional consequences. Measuring the in vivo levels of incorporated mutant and WT cTnI, and their basal phosphorylation levels by top-down mass spectrometry demonstrated: 1) a dominant-negative effect such that, the R21C+/- hearts incorporated 24.9% of the mutant cTnI within the myofilament; and 2) the R21C mutation abolished the in vivo phosphorylation of Ser(23)/Ser(24) in the mutant cTnI. Adult heterozygous (R21C+/-) and homozygous (R21C+/+) mutant mice activated the fetal gene program and developed a remarkable degree of cardiac hypertrophy and fibrosis. Investigation of cardiac skinned fibers isolated from WT and heterozygous mice revealed that the WT cTnI was completely phosphorylated at Ser(23)/Ser(24) unless the mice were pre-treated with propranolol. After propranolol treatment (-PKA), the pCa-tension relationships of all three mice (i.e. WT, R21C+/-, and R21C+/+) were essentially the same. However, after treatment with propranolol and PKA, the R21C cTnI mutation reduced (R21C+/-) or abolished (R21C+/+) the well known decrease in the Ca(2+) sensitivity of tension that accompanies Ser(23)/Ser(24) cTnI phosphorylation. Altogether, the combined effects of the R21C mutation appear to contribute toward the development of HCM and suggest that another physiological role for the phosphorylation of Ser(23)/Ser(24) in cTnI is to prevent cardiac hypertrophy.

Publication types

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

MeSH terms

  • Amino Acid Substitution*
  • Animals
  • Anti-Arrhythmia Agents / pharmacology
  • Calcium / metabolism
  • Cardiomyopathy, Hypertrophic, Familial / genetics
  • Cardiomyopathy, Hypertrophic, Familial / metabolism*
  • Cardiomyopathy, Hypertrophic, Familial / pathology
  • Cyclic AMP-Dependent Protein Kinases / genetics
  • Cyclic AMP-Dependent Protein Kinases / metabolism
  • Endomyocardial Fibrosis / genetics
  • Endomyocardial Fibrosis / metabolism
  • Gene Knock-In Techniques
  • Humans
  • Mice
  • Mice, Mutant Strains
  • Mutation, Missense*
  • Myocardium / metabolism*
  • Myocardium / pathology
  • Myofibrils / genetics
  • Myofibrils / metabolism*
  • Myofibrils / pathology
  • Phosphorylation / genetics
  • Propranolol / pharmacology
  • Troponin I / genetics
  • Troponin I / metabolism*

Substances

  • Anti-Arrhythmia Agents
  • Troponin I
  • Propranolol
  • Cyclic AMP-Dependent Protein Kinases
  • Calcium