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Accueil Tous les numéros Volume 209 / Numéro 2 (2015) Biologie Aujourd'hui, 209 2 (2015) 125-132 References
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Issue
Biologie Aujourd'hui
Volume 209, Number 2, 2015
Page(s) 125 - 132
Section Rôle central de la mitochondrie dans la physiopathologie
DOI https://doi.org/10.1051/jbio/2015014
Published online 29 octobre 2015
  • Alexander, C., Votruba, M., Pesch, U.E., Thiselton, D.L., Mayer, S., Moore, A., Rodriguez, M., Kellner, U., Leo-Kottler, B., Auburger, G., Bhattacharya, S.S., and Wissinger, B. (2000). OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet, 26, 211-215. [CrossRef] [PubMed] [Google Scholar]
  • Antonicka, H., Sasarman, F., Kennaway, N.G., and Shoubridge, E.A. (2006). The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1. Hum Mol Genet, 15, 1835-1846. [CrossRef] [PubMed] [Google Scholar]
  • Auré, K., Jardel, C., and Lombès, A. (2005). Mitochondrial diseases: molecular mechanisms, clinical presentations and diagnosis investigations. Ann Pathol, 25, 270-281. [CrossRef] [PubMed] [Google Scholar]
  • Auré, K., Ogier de Baulny, H., Laforet, P., Jardel, C., Eymard, B., and Lombès, A. (2007). Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression? Brain, 130, 1516-1524. [CrossRef] [PubMed] [Google Scholar]
  • Bataillard, M., Chatzoglou, E., Rumbach, L., Sternberg, D., Tournade, A., Laforêt, P., Jardel, C., Maisonobe, T., and Lombès, A. (2001). Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation. Neurology, 56, 405-407. [CrossRef] [PubMed] [Google Scholar]
  • Battersby, B.J., Loredo-Osti, J.C., and Shoubridge, E.A. (2003). Nuclear genetic control of mitochondrial DNA segregation. Nat Genet, 33, 183-186. [CrossRef] [PubMed] [Google Scholar]
  • Byrne, E., Blumbergs, P.C., Hallpike, J.F., and Mukherjee, T.M. (1983). Clinical features of mitochondrial myopathy. Aust N Z J Med, 13, 353-358. [CrossRef] [MathSciNet] [PubMed] [Google Scholar]
  • Capaldi, R.A., Halphen, D.G., Zhang, Y.Z., and Yanamura, W. (1988). Complexity and tissue specificity of the mitochondrial respiratory chain. J Bioenerg Biomembr, 20, 291-311. [CrossRef] [PubMed] [Google Scholar]
  • Casari, G., De Fusco, M., Ciarmatori, S., Zeviani, M., Mora, M., Fernandez, P., De Michele, G., Filla, A., Cocozza, S., Marconi, R., Dürr, A., Fontaine, B., and Ballabio, A. (1998). Spastic paraplegia and OXPHOS impairment caused by mutations in Paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell, 93, 973-983. [CrossRef] [PubMed] [Google Scholar]
  • Cizkova, A., Stranecky, V., Mayr, J.A, Tesarova, M., Havlickova, V., Paul, J., Ivanek, R., Kuss, A.W., Hansikova, H., Kaplanova, V., Vrbacky, M., Hartmannova, H., Noskova, L., Honzik, T., Drahota, Z., Magner, M., Hejzlarova, K., Sperl, W., Zeman, J., Houstek, J., and Kmoch, S. (2008). TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. Nat Genet, 40, 1288-1290. [CrossRef] [PubMed] [Google Scholar]
  • Cree, L.M., Samuels, D.C., de Sousa Lopes, S.C., Rajasimha, H.K., Wonnapinij, P., Mann, J.R., Dahl, H.H., and Chinnery, P.F. (2008). A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes. Nat Genet, 40, 249-254. [CrossRef] [PubMed] [Google Scholar]
  • Delettre, C., Lenaers, G., Griffoin, J.M., Gigarel, N., Lorenzo, C., Belenguer, P., Pelloquin, L., Grosgeorge, J., Turc-Carel, C., Perret, E., Astarie-Dequeker, C., Lasquellec, L., Arnaud, B., Ducommun, B., Kaplan, J., and Hamel, C.P. (2000). Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nature Genet, 26, 207-210. [CrossRef] [Google Scholar]
  • DiMauro, S. (2004). Mitochondrial diseases. Biochim Biophys Acta, 1658, 80-88. [CrossRef] [PubMed] [Google Scholar]
  • Dubowitz, V., and Brooke, M.H. (1973). Muscle biopsy: a modern approach. Philadelphia, W.B. Saunders Compagny. [Google Scholar]
  • Elliott, H.R., Samuels, D.C., Eden, J.A., Relton, C.L., and Chinnery, P.F. (2008). Pathogenic mitochondrial DNA mutations are common in the general population. Am J Hum Genet, 83, 254-260. [CrossRef] [PubMed] [Google Scholar]
  • Honzik, T., Tesarova, M., Mayr, J.A., Hansikova, H., Jesina, P., Bodamer, O., Koch, J., Magner, M., Freisinger, P., Huemer, M., Kostkova, O., van Coster, R., Kmoch, S., Houstek, J., Sperl, W., and Zeman, J. (2010). Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation. Arch Dis Child, 95, 296-301. [CrossRef] [PubMed] [Google Scholar]
  • Jenuth, J.P., Peterson, A.C., Fu, K., and Shoubridge, E.A. (1996). Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA. Nature Genet, 14, 146-151. [CrossRef] [Google Scholar]
  • Jenuth, J.P., Peterson, A.C., and Shoubridge, E.A. (1997). Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice. Nature Genet, 16, 93-95. [CrossRef] [PubMed] [Google Scholar]
  • Jokinen, R., Marttinen, P., Sandell, H.K., Manninen, T., Teerenhovi, H., Wai, T., Teoli, D., Loredo-Osti, J.C., Shoubridge, E.A., and Battersby, B.J. (2010). Gimap3 regulates tissue-specific mitochondrial DNA segregation. PLoS Genet, 6, e1001161. [CrossRef] [PubMed] [Google Scholar]
  • Koopman, W.J., Willems, P.H., and Smeitink, J.A. (2012). Monogenic mitochondrial disorders. N Engl J Med, 366, 1132-1141. [CrossRef] [PubMed] [Google Scholar]
  • Manouvrier, S., Rötig, A., Hannebique, G., Gheerbrandt, J.D., Royer-Legrain, G., Munnich, A., Parent, M., Grünfeld, J.P., Largillière, C., Lombès, A., and Bonnefont, J.P. (1995). Point mutation of the mitochondrial tRNALeu gene (A3243G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness. J Med Genet, 32, 654-656. [CrossRef] [PubMed] [Google Scholar]
  • Medja, F., Allouche, S., Frachon, P., Jardel, C., Malgat, M., de Camaret, B.M., Slama, A., Lunardi, J., Mazat, J.P., and Lombes, A. (2009). Development and implementation of standardized respiratory chain spectrophotometric assays for clinical diagnosis. Mitochondrion, 9, 331-339. [CrossRef] [PubMed] [Google Scholar]
  • Poggi-Travert, F., Martin, D., Billette de Villemeur, T., Bonnefont, J.P., Vassault, A., Rabier, D., Charpentier, C., Kamoun, P., Munnich, A., and Saudubray, J.M. (1996). Metabolic intermediates in lactic acidosis: compounds, samples and interpretation. J Inherit Metab Dis, 19, 478-488. [CrossRef] [PubMed] [Google Scholar]
  • Saada, A., Shaag, A., and Elpeleg, O. (2003). mtDNA depletion myopathy: elucidation of the tissue specificity in the mitochondrial thymidine kinase (TK2) deficiency. Mol Genet Metab, 79, 1-5. [CrossRef] [MathSciNet] [PubMed] [Google Scholar]
  • Schaefer, A.M., McFarland, R., Blakely, E.L., He, L., Whittaker, R.G., Taylor, R.W., Chinnery, P.F., and Turnbull, D.M. (2008). Prevalence of mitochondrial DNA disease in adults. Ann Neurol, 63, 35-39. [CrossRef] [PubMed] [Google Scholar]
  • Skladal, D., Halliday, J., and Thorburn, D.R. (2003). Minimum birth prevalence of mitochondrial respiratory chain disorders in children. Brain, 126, 1905-1912. [CrossRef] [PubMed] [Google Scholar]
  • van den Ouweland, J.M., de Klerk, J.B., van de Corput, M.P., Dirks, R.W., Raap, A.K., Scholte, H.R., Huijmans, J.G., Hart, L.M., Bruining, G.J., and Maassen, J.A. (2000). Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow-pancreas syndrome. Eur J Hum Genet, 8, 195-203. [CrossRef] [PubMed] [Google Scholar]
  • Veltri, K., Espiritu, M., and Singh, G. (1990). Distinct genomic copy number in mitochondria of different mammalian organs. J Cell Physiol, 143, 160-164. [CrossRef] [PubMed] [Google Scholar]
  • Vittecoq, D., Jardel, C., Barthélémy, C., Escaut, L., Cheminot, N., Chapin, S., Sternberg, D., Maisonobe, T., and Lombès, A. (2002). Mitochondrial damage associated with long-term antiretroviral treatment: associated alteration or causal disorder? J Acquir Immune Defic Syndr, 31, 299-308. [CrossRef] [PubMed] [Google Scholar]
  • Wai, T., Teoli, D., and Shoubridge, E.A. (2008). The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes. Nat Genet, 40, 1484-1488. [CrossRef] [PubMed] [Google Scholar]
  • Weraarpachai, W., Sasarman, F., Nishimura, T., Antonicka, H., Auré, K., Rotig, A., Lombès, A., and Shoubridge, E.A. (2012). Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis. Am J Hum Genet, 90, 142-151. [CrossRef] [PubMed] [Google Scholar]
  • Zhu, Z., Yao, J., Johns, T., Fu, K., De Bie, I., Macmillan, C., Cuthbert, A.P., Newbold, R.F., Wang, J., Chevrette, M., Brown, G.K., Brown, R.M., and Shoubridge, E.A. (1998). SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nature Genet, 20, 337-343. [CrossRef] [Google Scholar]
  • Zuchner, S., Mersiyanova, I.V., Muglia, M., Bissar-Tadmouri, N., Rochelle, J., Dadali, E.L., Zappia, M., Nelis, E., Patitucci, A., Senderek, J., Parman, Y., Evgrafov, O., Jonghe, P.D., Takahashi, Y., Tsuji, S., Pericak-Vance, M.A., Quattrone, A., Battaloglu, E., Polyakov, A.V., Timmerman, V., Schroder, J.M., Vance, J.M., and Battologlu, E. (2004). Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet, 36, 449-451. [CrossRef] [PubMed] [Google Scholar]

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