PMID:15053874

Citation	Acín-Pérez, R, Bayona-Bafaluy, MP, Fernández-Silva, P, Moreno-Loshuertos, R, Pérez-Martos, A, Bruno, C, Moraes, CT and Enríquez, JA (2004) Respiratory complex III is required to maintain complex I in mammalian mitochondria. Mol. Cell 13:805-15
Abstract	A puzzling observation in patients with oxidative phosphorylation (OXPHOS) deficiencies is the presence of combined enzyme complex defects associated with a genetic alteration in only one protein-coding gene. In particular, mutations in the mtDNA encoded cytochrome b gene are associated either with combined complex I+III deficiency or with only complex III deficiency. We have reproduced the combined complex I+III defect in mouse and human cultured cell models harboring cytochrome b mutations. In both, complex III assembly is impeded and causes a severe reduction in the amount of complex I, not observed when complex III activity was pharmacologically inhibited. Metabolic labeling in mouse cells revealed that complex I was assembled, although its stability was severely hampered. Conversely, complex III stability was not influenced by the absence of complex I. This structural dependence among complexes I and III was confirmed in a muscle biopsy of a patient harboring a nonsense cytochrome b mutation.
Links	PubMed PMC3164363
Keywords	Animals; Cells, Cultured; Clone Cells; Codon, Nonsense; Cytochromes b/genetics; DNA, Mitochondrial/genetics; DNA, Mitochondrial/metabolism; Electron Transport Complex III/genetics; Electron Transport Complex III/metabolism; Humans; L Cells (Cell Line); Mammals; Mice; Mitochondria/enzymology; Mitochondria/genetics; Models, Molecular; Mutagenesis, Site-Directed; Mutation, Missense; Oxidative Phosphorylation
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