The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease
Open accessAbstract
Leber's hereditary optic neuropathy (LHON), the most frequent mitochondrial disorder, is mostly due to three mitochondrial DNA (mtDNA) mutations in respiratory chain complex I subunit genes: 3460/ND1, 11778/ND4 and 14484/ND6. Despite considerable clinical evidences, a genetic modifying role of the mtDNA haplogroup background in the clinical expression of LHON remains experimentally unproven. We investigated the effect of mtDNA haplogroups on the assembly of oxidative phosphorylation (OXPHOS) complexes in transmitochondrial hybrids (cybrids) harboring the three common LHON mutations. The steady-state levels of respiratory chain complexes appeared normal in mutant cybrids. However, an accumulation of low molecular weight subcomplexes suggested a complex I assembly/stability defect, which was further demonstrated by reversibly inhibiting mitochondrial protein translation with doxycycline. Our results showed differentially delayed assembly rates of respiratory chain complexes I, III and IV amongst mutants belonging to different mtDNA haplogroups, revealing that specific mtDNA polymorphisms may modify the pathogenic potential of LHON mutations by affecting the overall assembly kinetics of OXPHOS complexes.
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Cites
Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA
Andrews, R. M., Kubacka, I., Chinnery, P. F., Lightowlers, R. N., Turnbull, D. M., & Howell, N. (1999) · Nature Genetics · doi:10.1038/13779 · Cited by 3,337
Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy
Wallace, D. C., Singh, G., Lott, M. T., Hodge, J. A., Schurr, T. G., Lezza, A. M. S., Elsas, L. J., & Nikoskelainen, E. K. (1988) · Science · doi:10.1126/science.3201231 · Cited by 2,440
Cited by
Mitochondrial optic neuropathies—Disease mechanisms and therapeutic strategies
Yu-Wai-Man, P., Griffiths, P. G., & Chinnery, P. F. (2011) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2010.11.002 · Cited by 633
Mammalian Mitochondrial Complex I: Biogenesis, Regulation, and Reactive Oxygen Species Generation
Koopman, W. J. H., Nijtmans, L. G. J., Dieteren, C. E. J., Roestenberg, P., Valsecchi, F., Smeitink, J. A. M., & Willems, P. H. G. M. (2010) · Antioxidants & Redox Signaling · doi:10.1089/ars.2009.2743 · Cited by 411
Self-citationChinnery, P. F., & Hudson, G. (2013) · British Medical Bulletin · doi:10.1093/bmb/ldt017 · Cited by 395
Recent mitochondrial DNA mutations increase the risk of developing common late-onset human diseases
Hudson, G., Gomez-Duran, A., Wilson, I. J., & Chinnery, P. F. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004369 · Cited by 148
Rensvold, J. W., Ong, S.-E., Jeevananthan, A., Carr, S. A., Mootha, V. K., & Pagliarini, D. J. (2013) · Cell Reports · doi:10.1016/j.celrep.2012.11.029 · Cited by 82
Metadata
- Authors
- Pello, R., Martín, M. A., Carelli, V., Nijtmans, L. G., Achilli, A., Pala, M., Torroni, A., Gómez-Durán, A., Ruiz-Pesini, E., Martinuzzi, A., Smeitink, J. A., Arenas, J., & Ugalde, C.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2008-09-19
- Volume
- 17
- Issue
- 24
- Pages
- 4001-4011
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2133367167
- Cited by
- 160
- References
- 2
- FWCI
- 4.59
- Type
- journal article
- Language
- en
- Open access
- green
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- Pello, R., Martín, M. A., Carelli, V., Nijtmans, L. G., Achilli, A., Pala, M., Torroni, A., Gómez-Durán, A., Ruiz-Pesini, E., Martinuzzi, A., Smeitink, J. A., Arenas, J., & Ugalde, C. (2008). Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease. Human Molecular Genetics. https://doi.org/10.1093/hmg/ddn303
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