Novel insights on the relationship between T-tubular defects and contractile dysfunction in a mouse model of hypertrophic cardiomyopathy

J Mol Cell Cardiol. 2016 Feb:91:42-51. doi: 10.1016/j.yjmcc.2015.12.013. Epub 2015 Dec 20.

Abstract

Abnormalities of cardiomyocyte Ca(2+) homeostasis and excitation-contraction (E-C) coupling are early events in the pathogenesis of hypertrophic cardiomyopathy (HCM) and concomitant determinants of the diastolic dysfunction and arrhythmias typical of the disease. T-tubule remodelling has been reported to occur in HCM but little is known about its role in the E-C coupling alterations of HCM. Here, the role of T-tubule remodelling in the electro-mechanical dysfunction associated to HCM is investigated in the Δ160E cTnT mouse model that expresses a clinically-relevant HCM mutation. Contractile function of intact ventricular trabeculae is assessed in Δ160E mice and wild-type siblings. As compared with wild-type, Δ160E trabeculae show prolonged kinetics of force development and relaxation, blunted force-frequency response with reduced active tension at high stimulation frequency, and increased occurrence of spontaneous contractions. Consistently, prolonged Ca(2+) transient in terms of rise and duration are also observed in Δ160E trabeculae and isolated cardiomyocytes. Confocal imaging in cells isolated from Δ160E mice reveals significant, though modest, remodelling of T-tubular architecture. A two-photon random access microscope is employed to dissect the spatio-temporal relationship between T-tubular electrical activity and local Ca(2+) release in isolated cardiomyocytes. In Δ160E cardiomyocytes, a significant number of T-tubules (>20%) fails to propagate action potentials, with consequent delay of local Ca(2+) release. At variance with wild-type, we also observe significantly increased variability of local Ca(2+) transient rise as well as higher Ca(2+)-spark frequency. Although T-tubule structural remodelling in Δ160E myocytes is modest, T-tubule functional defects determine non-homogeneous Ca(2+) release and delayed myofilament activation that significantly contribute to mechanical dysfunction.

Keywords: Excitation–contraction coupling; Hypertrophic cardiomyopathy; Imaging; Non-linear microscopy; T-tubules.

Publication types

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

MeSH terms

  • Actin Cytoskeleton / metabolism
  • Actin Cytoskeleton / pathology
  • Actin Cytoskeleton / ultrastructure
  • Action Potentials
  • Animals
  • Calcium / metabolism
  • Calcium Signaling
  • Cardiomyopathy, Hypertrophic / genetics
  • Cardiomyopathy, Hypertrophic / metabolism
  • Cardiomyopathy, Hypertrophic / pathology
  • Cardiomyopathy, Hypertrophic / physiopathology*
  • Disease Models, Animal
  • Excitation Contraction Coupling*
  • Gene Expression
  • Humans
  • Ion Transport
  • Mice
  • Mice, Knockout
  • Microscopy, Confocal
  • Mutation
  • Myocardial Contraction*
  • Myocytes, Cardiac / metabolism
  • Myocytes, Cardiac / pathology*
  • Myocytes, Cardiac / ultrastructure
  • Myofibrils / metabolism
  • Myofibrils / pathology*
  • Myofibrils / ultrastructure
  • Optical Imaging
  • Sarcolemma / metabolism
  • Sarcolemma / pathology*
  • Sarcolemma / ultrastructure
  • Troponin T / genetics
  • Troponin T / metabolism

Substances

  • Troponin T
  • Calcium