Marín-García José, Goldenthal Michael J
Molecular Cardiology and Neuromuscular Institute, Highland Park, New Jersey 08904, USA.
J Card Fail. 2002 Oct;8(5):347-61. doi: 10.1054/jcaf.2002.127774.
Defects in mitochondrial structure and function have been found in association with cardiovascular diseases such as dilated and hypertrophic cardiomyopathy, cardiac conduction defects and sudden death, ischemic and alcoholic cardiomyopathy, and myocarditis. A genetic basis has been established for some mitochondrial abnormalities (eg, mitochondrial DNA changes leading to oxidative phosphorylation dysfunction, fatty acid beta-oxidation (FAO) defects resulting from specific nuclear mutations) whereas other abnormalities appear to be due to a more sporadic or environmental cardiotoxic insult or have not yet been characterized.
This article reviews mitochondrial abnormalities in structure or function reported in cardiac diseases highlighting information about their potential etiology, significance in cardiac pathogenesis, and diagnostic and therapeutic options available to the clinician. We also provide a brief background concerning mitochondrial biogenesis and bioenergetic pathways in cardiac growth, development, and aging.
Although aberrations in bioenergetic functioning of mitochondria appear to be most often related to cardiac dysfunction, the primary defect(s) causing bioenergetic dysfunction may reside in a nonbioenergetic pathway (eg, signaling between mitochondria and nucleus) or in overall mitochondrial biogenesis or degradation pathways.
线粒体结构和功能缺陷已被发现与多种心血管疾病相关，如扩张型和肥厚型心肌病、心脏传导缺陷和猝死、缺血性和酒精性心肌病以及心肌炎。一些线粒体异常已确定有遗传基础（例如，线粒体DNA变化导致氧化磷酸化功能障碍、特定核突变引起的脂肪酸β氧化（FAO）缺陷），而其他异常似乎是由于更散发性的或环境性心脏毒性损伤所致，或者尚未得到明确的特征描述。
本文综述了在心脏疾病中报道的线粒体结构或功能异常，重点介绍了其潜在病因、在心脏发病机制中的意义以及临床医生可用的诊断和治疗选择。我们还简要介绍了线粒体生物合成以及心脏生长、发育和衰老过程中的生物能量途径的背景知识。
尽管线粒体生物能量功能异常似乎最常与心脏功能障碍相关，但导致生物能量功能障碍的原发性缺陷可能存在于非生物能量途径（例如，线粒体与细胞核之间的信号传导）或整体线粒体生物合成或降解途径中。
