| First Author | Acín-Pérez R | Year | 2004 |
| Journal | Mol Cell | Volume | 13 |
| Issue | 6 | Pages | 805-15 |
| PubMed ID | 15053874 | Mgi Jnum | J:89307 |
| Mgi Id | MGI:3039348 | Doi | 10.1016/s1097-2765(04)00124-8 |
| Citation | Acin-Perez R, et al. (2004) Respiratory complex III is required to maintain complex I in mammalian mitochondria. Mol Cell 13(6):805-15 |
| abstractText | 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. |
