线粒体呼吸链酶复合物V缺陷与线粒体病

发布时间：2018-03-03 04:13

本文选题：线粒体呼吸链　切入点：复合物V　出处：《中国当代儿科杂志》2013年07期 　论文类型：期刊论文

【摘要】：线粒体呼吸链酶复合物V,也称为ATP合酶,是位于线粒体内膜上的大蛋白复合体,由2个功能性蛋白复合物F0及F1构成。复合物V是线粒体呼吸链的最后一个复合物,在线粒体中通过电化学梯度传递质子,以ADP、Pi及Mg2+为原料合成ATP,为细胞供能。大多数患者新生儿期发病,导致严重脑损害或多脏器损害,病死率很高。主要临床表现为神经肌肉病、心肌病、高乳酸血症及3-甲基戊烯二酸尿症等,因受累器官的不同导致显著的临床异质性。复合物V由16个亚基组成,由线粒体基因与核基因共同编码。迄今,国内外已报道了MT-ATP6、MT-ATP8、ATPAF2、TMEM70、ATP5E基因突变导致的复合物V缺陷。本文总结了线粒体呼吸链复合物V的结构及功能,并对复合物V缺陷的病理、临床表现、诊断、治疗及分子遗传学研究进展进行了综述。
[Abstract]:Mitochondrial respiratory chain enzyme complex V, also known as ATP synthase, is a large protein complex located on the mitochondrial intima and is composed of two functional protein complexes F0 and F1. Complex V is the last complex in the mitochondrial respiratory chain. ATP was synthesized by electrochemical gradient transport of protons in mitochondria, and ADPP-Pi and Mg2 were used as raw materials to provide energy for the cells. Most of the patients developed neonatal stage disease, which resulted in severe brain damage or multiple organ damage. The main clinical manifestations were neuromuscular disease, cardiomyopathy, hyperlactic acidemia and 3-methylpentenediuricuria, which resulted in significant clinical heterogeneity due to different involved organs. Complex V was composed of 16 subunits. It is encoded by mitochondrial gene and nuclear gene. Up to now, we have reported the V defect of complex V caused by mutation of ATPAF2 and TMEM70AT5E gene in MT-ATPase 6, MT-ATP 8, ATPAF2 and TMEM70. The structure and function of mitochondrial respiratory chain complex V are summarized, and the pathology of complex V defect is summarized. The advances in clinical manifestations, diagnosis, treatment and molecular genetics are reviewed.
【作者单位】：北京大学第一医院儿科;
【基金】：“十二五”国家科技支撑计划项目(2012BAI09B04)
【分类号】：R363

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