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。
The mammalian mitochondrial ATP synthase, also as known as mitochondrial respiratory chain complex V, is a large protein complex located in the mitochondrial inner membrane, where it catalyzes ATP synthesis from ADP, Pi, and Mg2 ＋ at the expense of an electrochemical gradient of protons generated by the electron transport chain. Complex V is composed of 2 functional domains F0 and F1. The clinical features of patients are significantly heterogeneous depending on the involved organs. Most patients with complex V deficiency had clinical onset in the neonatal period with severe brain damage or multi-organ failure resulting in a high mortality. Neuromuscular disorders, eardiomyopathy, lactic acidosis and 3-methylglutaconic aciduria are common findings. Complex V consists of 16 subunits encoded by both mitochondrial DNA and nuclear DNA. On MT-ATP6, MT-ATP8, ATPAF2, TMEM70 and ATP5E gene of mitochondrial DNA, many mutations associated with Complex V deficiency have been identified. Here, the pathology, clinical features, diagnosis, treatment and molecular genetics of Complex V deficiency were summarized.
出处
《中国当代儿科杂志》
CAS
CSCD
北大核心
2013年第7期596-600,F0003,共6页
Chinese Journal of Contemporary Pediatrics
基金
"十二五"国家科技支撑计划项目(2012BAI09B04)
关键词
线粒体呼吸链
复合物V
ATP合酶
线粒体病
Mitochondrial respiratory chain
Complex V
ATP synthase
Mitochondrial disease
