心肌肌钙蛋白T与家族性肥厚型心肌病：一段能量相关的故事。
Cardiac troponin T and familial hypertrophic cardiomyopathy: an energetic affair.
作者信息
Schwartz Ketty, Mercadier Jean-Jacques
机构信息
Institut National de la Santé et de la Recherche Médicale ( INSERM) U582, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
出版信息
J Clin Invest. 2003 Sep;112(5):652-4. doi: 10.1172/JCI19632.
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.
摘要
长期以来人们一直注意到，因心肌肌钙蛋白T（cTnT）突变导致家族性肥厚型心肌病的患者常遭遇心源性猝死，但他们并未出现明显的心室肥厚，这表明除心肌收缩性改变之外，还有一种独特的细胞机制在起作用。一项新研究表明，cTnT中的单个错义突变会对能量代谢造成显著破坏，进而导致心肌病。
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