title: [Mitochondrial respiratory chain complex Ⅱ deficiency and diseases].
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.
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
authors.forename: Yan-Yan
authors.initials: YY
authors.lastname: Ma
authors.forename: Yan-Ling
authors.initials: YL
authors.lastname: Yang
mesh_terms: D000818:Animals; D042963:Electron Transport Complex II / Q000737:chemistry / Q000172:deficiency* / Q000502:physiology; D005260:Female; D006801:Humans; D008297:Male; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy
chemical_list: D042963:Electron Transport Complex II