Cardiac troponin T and familial hypertrophic cardiomyopathy: an energetic affair.
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.
Schwartz
Ketty
K
Institut National de la Santé et de la Recherche Médicale ( INSERM) U582, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France. k.schwartz@myologie.chups.jussieu.fr.
Mercadier
Jean-Jacques
JJ
D002312:Cardiomyopathy, Hypertrophic / Q000209:etiology / Q000235:genetics*; D004734:Energy Metabolism; D006801:Humans; D009154:Mutation; D009206:Myocardium / Q000378:metabolism; D020107:Troponin T / Q000235:genetics*
D020107:Troponin T