Mitochondrial disorders associated with mitochondrial respiratory chain complex V deficiency.
- Author:
Xi-Yuan LI
1
;
Yan-Ling YANG
Author Information
1. Department of Pediatrics, Peking University First Hospital, Beijing 100034, China. clovernet@126.com.
- Publication Type:Journal Article
- MeSH:
Mitochondrial Diseases;
complications;
etiology;
therapy;
Mitochondrial Proton-Translocating ATPases;
chemistry;
deficiency;
genetics;
physiology;
Prognosis
- From:
Chinese Journal of Contemporary Pediatrics
2013;15(7):596-600
- CountryChina
- Language:Chinese
-
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.
