Mitochondrial respiratory chain complex Ⅱ deficiency and diseases

MA Yan-Yan; YANG Yan-Ling

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Chinese Journal of Contemporary Pediatrics ›› 2012, Vol. 14 ›› Issue (10) : 723-727.

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Mitochondrial respiratory chain complex Ⅱ deficiency and diseases

MA Yan-Yan, YANG Yan-Ling

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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.

Key words

Mitochondrial respiratory chain complex Ⅱ / Mitochondrial disease / Oxidative phosphorylation / Nuclear gene

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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

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