Mitochondrial disorders associated with mitochondrial respiratory chain complex V deficiency / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 596-600, 2013.
Article
in Chinese
| WPRIM (Western Pacific)
| ID: wpr-241464
Responsible library:
WPRO
ABSTRACT
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, cardiomyopathy, 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.
Full text:
Available
Database:
WPRIM (Western Pacific)
Main subject:
Physiology
/
Prognosis
/
Therapeutics
/
Chemistry
/
Mitochondrial Diseases
/
Mitochondrial Proton-Translocating ATPases
/
Genetics
Type of study:
Prognostic study
Language:
Chinese
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2013
Document type:
Article