线粒体呼吸链复合物Ⅱ缺陷与疾病

马艳艳; 杨艳玲

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中国当代儿科杂志 ›› 2012, Vol. 14 ›› Issue (10) : 723-727.

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线粒体呼吸链复合物Ⅱ缺陷与疾病

马艳艳，杨艳玲

作者信息 +

Mitochondrial respiratory chain complex Ⅱ deficiency and diseases

MA Yan-Yan, YANG Yan-Ling

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文章历史 +

摘要

本文就近年关于线粒体呼吸链复合物Ⅱ的结构、功能及其缺陷的临床表型、诊断、治疗及分子遗传学研究方面的进展进行文献综述。线粒体呼吸链复合物Ⅱ亦称琥珀酸泛醌氧化还原酶，是线粒体呼吸链的重要组分之一，对细胞的氧化磷酸化起着关键作用。呼吸链复合物Ⅱ与氧化性应激密切相关，是细胞内毒性物质以及异常代谢产物的敏感靶标。复合物Ⅱ缺陷导致的线粒体病临床表现多样，以神经肌肉进行性损害为主要表现，少数表现为心肌病、发作性呕吐、溶血尿毒综合征等。诊断有赖于线粒体呼吸链酶复合物活性测定和基因分析。患者受累组织的呼吸链复合物Ⅱ活性降低。已发现SDHA基因与编码复合物Ⅱ组装因子的SDHAF1基因的突变可导致复合物Ⅱ缺陷。目前线粒体呼吸链复合物Ⅱ缺陷的治疗主要是以改善线粒体功能为主。

Abstract

This article reviews the structure and function of mitochondrial respiratory chain complex Ⅱ, and the clinical features, diagnosis, treatment and genetic analysis of mitochondrial respiratory chain complex Ⅱ deficiency. Mitochondrial complex Ⅱ, known as succinate dehydrogenase, is a part of the mitochondrial respiratory chain. It plays an important role in cellular oxidative phosphorylation. It is associated with oxidative stress and is a sensitive target for toxic substances and abnormal metabolin in cells. Clinical manifestations of respiratory chain complex Ⅱ deficiency are characterized by a wide variety of abnormalities. Progressive neuromuscular dysfunction is the most common syndrome. Cardiomyopathy, episodic vomit and hemolytic uremic syndrome are also encountered in a few cases. A precise diagnosis is dependent on enzyme activities assay of respiratory chain complexes and genetic analysis. Complex Ⅱ activities decreased in affected tissues. Pathogenic mutations in SDHA gene and SDHAF1 gene encoding assembly factor have been found so far. Clinical treatment aims at improving the mitochondrial function.

导出引用

马艳艳，杨艳玲. 线粒体呼吸链复合物Ⅱ缺陷与疾病[J]. 中国当代儿科杂志. 2012, 14(10): 723-727

MA Yan-Yan, YANG Yan-Ling. Mitochondrial respiratory chain complex Ⅱ deficiency and diseases[J]. Chinese Journal of Contemporary Pediatrics. 2012, 14(10): 723-727

中图分类号： R596

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