Role of troponin T in disease

Aldrin V Gomes, Junor A. Barnes, Keita Harada, James D. Potter

Research output: Contribution to journalArticle

51 Citations (Scopus)

Abstract

Several striated muscle myopathies have been directly linked to mutations in contractile and associated proteins. Troponin T (TnT) is one of the three subunits that form troponin (Tn) which together with tropomyosin is responsible for the regulation of striated muscle contraction. All three subunits of cardiac Tn as well as tropomyosin have been associated with hypertrophic cardiomyopathy (HCM). However, TnT accounts for most of the mutations that cause HCM in these regulatory proteins. To date 30 mutations have been identified in the cardiac TnT (CTnT) gene that results in familial HCM (FHC). The CTnT gene has also been associated with familial dilated cardiomyopathy (DCM). CTnT deficiency is lethal due to impaired cardiac development. A recessive nonsense mutation in the gene encoding slow skeletal TnT has been associated with an unusual, severe form of nemaline myopathy among the Old Order Amish. How each mutation leads to the diverse clinical symptoms associated with FHC, DCM or nemaline myopathy is unclear. However, the use of animal model systems, in particular transgenic mice, has significantly increased our knowledge of normal and myopathic muscle physiology. In this review, we focus on the role of TnT in muscle physiology and disease.

Original languageEnglish (US)
Pages (from-to)115-129
Number of pages15
JournalMolecular and Cellular Biochemistry
Volume263
Issue number1
DOIs
StatePublished - Aug 2004
Externally publishedYes

Fingerprint

Troponin T
Muscle
Nemaline Myopathies
Tropomyosin
Mutation
Troponin
Striated Muscle
Hypertrophic Cardiomyopathy
Physiology
Amish
Genes
Familial Hypertrophic Cardiomyopathy
Contractile Proteins
Muscles
Gene encoding
Nonsense Codon
Muscular Diseases
Muscle Contraction
Transgenic Mice
Animals

Keywords

  • Calcium
  • Dilated cardiomyopathy
  • Hypertrophic cardiomyopathy
  • Muscle contraction
  • Nemaline myopathy
  • Troponin T

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Molecular Biology
  • Genetics
  • Cell Biology

Cite this

Gomes, A. V., Barnes, J. A., Harada, K., & Potter, J. D. (2004). Role of troponin T in disease. Molecular and Cellular Biochemistry, 263(1), 115-129. https://doi.org/10.1023/B:MCBI.0000041853.20588.a0

Role of troponin T in disease. / Gomes, Aldrin V; Barnes, Junor A.; Harada, Keita; Potter, James D.

In: Molecular and Cellular Biochemistry, Vol. 263, No. 1, 08.2004, p. 115-129.

Research output: Contribution to journalArticle

Gomes, AV, Barnes, JA, Harada, K & Potter, JD 2004, 'Role of troponin T in disease', Molecular and Cellular Biochemistry, vol. 263, no. 1, pp. 115-129. https://doi.org/10.1023/B:MCBI.0000041853.20588.a0
Gomes, Aldrin V ; Barnes, Junor A. ; Harada, Keita ; Potter, James D. / Role of troponin T in disease. In: Molecular and Cellular Biochemistry. 2004 ; Vol. 263, No. 1. pp. 115-129.
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