title: [Mitochondrial disorders associated with mitochondrial respiratory chain complex V deficiency].
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.
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China. clovernet@126.com.
authors.forename: Xi-Yuan
authors.initials: XY
authors.lastname: Li
authors.forename: Yan-Ling
authors.initials: YL
authors.lastname: Yang
mesh_terms: D028361:Mitochondrial Diseases / Q000150:complications* / Q000209:etiology* / Q000628:therapy; D025261:Mitochondrial Proton-Translocating ATPases / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics / Q000502:physiology; D011379:Prognosis
chemical_list: C501005:MT-ATP6 protein, human; C021983:complex V (mitochondrial oxidative phosphorylation system); C513300:MT-ATP8 protein, human; D025261:Mitochondrial Proton-Translocating ATPases