Cardiac troponin T and familial hypertrophic cardiomyopathy: an energetic affair
- PMID: 12952912
- PMCID: PMC182216
- DOI: 10.1172/JCI19632
Cardiac troponin T and familial hypertrophic cardiomyopathy: an energetic affair
Abstract
It has long been noted that while patients with familial hypertrophic cardiomyopathy due to cardiac troponin T (cTnT) mutations often suffer sudden cardiac death, they do not develop significant ventricular hypertrophy, suggesting that a distinct cellular mechanism apart from alterations in myocardial contractility is responsible. A new study has revealed that a single missense mutation in cTnT causes a striking disruption to energy metabolism, leading to cardiomyopathy.
Comment on
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Decreased energetics in murine hearts bearing the R92Q mutation in cardiac troponin T.J Clin Invest. 2003 Sep;112(5):768-75. doi: 10.1172/JCI15967. J Clin Invest. 2003. PMID: 12952925 Free PMC article.
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