Targeted disruption of the cardiac troponin T gene causes sarcomere disassembly and defects in heartbeat within the early mouse embryo

Dev Biol. 2008 Oct 1;322(1):65-73. doi: 10.1016/j.ydbio.2008.07.007. Epub 2008 Jul 16.

Abstract

Cardiac troponin T (cTnT) is a component of the troponin (Tn) complex in cardiac myocytes, and plays a regulatory role in cardiac muscle contraction by anchoring two other Tn components, troponin I (TnI) and troponin C, to tropomyosin (Tm) on the thin filaments. In order to determine the in vivo function of cTnT, we created a null cTnT allele in the mouse TNNT2 locus. In cTnT-deficient (cTnT(-/-)) cardiac myocytes, the thick and thin filaments and alpha-actinin-positive Z-disk-like structures were not assembled into sarcomere, causing early embryonic lethality due to a lack of heartbeats. TnI was dissociated from Tm in the thin filaments without cTnT. In spite of loss of Tn on the thin filaments, the cTnT(-/-) cardiac myocytes showed regular Ca(2+)-transients. These findings indicate that cTnT plays a critical role in sarcomere assembly during myofibrillogenesis in the embryonic heart, and also indicate that the membrane excitation and intracellular Ca(2+) handling systems develop independently of the contractile system. In contrast, heterozygous cTnT(+/-) mice had a normal life span with no structural and functional abnormalities in their hearts, suggesting that haploinsufficiency could not be a potential cause of cardiomyopathies, known to be associated with a variety of mutations in the TNNT2 locus.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Actinin / metabolism
  • Actins / metabolism
  • Animals
  • Arrhythmias, Cardiac / genetics*
  • Arrhythmias, Cardiac / physiopathology
  • Calcium Signaling / genetics
  • Echocardiography
  • Embryo, Mammalian
  • Gene Targeting
  • Genes, Lethal
  • Heart / embryology*
  • Heart / physiopathology
  • Heart Rate, Fetal* / genetics
  • Heart Ventricles / cytology
  • Heart Ventricles / embryology
  • Heart Ventricles / physiopathology
  • Immunohistochemistry
  • Mice
  • Mice, Knockout
  • Muscle Fibers, Skeletal / physiology
  • Myocytes, Cardiac / metabolism*
  • Myocytes, Cardiac / ultrastructure
  • Organ Culture Techniques
  • Sarcomeres / genetics
  • Sarcomeres / metabolism*
  • Tropomyosin / metabolism
  • Troponin T / genetics
  • Troponin T / physiology*

Substances

  • Actins
  • Tropomyosin
  • Troponin T
  • Actinin