Mitochondrial respiratory chain complex Ⅱ deficiency and diseases / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 723-727, 2012.
Article
in Chinese
| WPRIM
| ID: wpr-353879
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Physiology
/
Therapeutics
/
Chemistry
/
Mitochondrial Diseases
/
Electron Transport Complex II
/
Diagnosis
/
Genetics
Type of study:
Diagnostic study
Limits:
Animals
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2012
Type:
Article
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