Lactic acidemia in the pathogenesis of mice carrying mitochondrial DNA with a deletion

Human Molecular Genetics

Volumn 19, Issue 16, 2010, Pages 3179-3189

  Ogasawara, Emi ^a   Nakada, Kazuto ^a   Hayashi, Jun Ichi ^a  

^a UNIVERSITY OF TSUKUBA   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DICHLOROACETIC ACID; GENE PRODUCT; LACTIC ACID; MITOCHONDRIAL DNA; MITOCHONDRIAL TRANSCRIPTION FACTOR A; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR GAMMA COACTIVATOR 1ALPHA; TRANSCRIPTION FACTOR;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BIOGENESIS; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EXPERIMENTAL MODEL; GENE DELETION; GENE EXPRESSION REGULATION; GENE MUTATION; LACTATE BLOOD LEVEL; LACTIC ACIDEMIA; LIFESPAN; MALE; MITOCHONDRIAL RESPIRATION; MOUSE; NONHUMAN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; TISSUE LEVEL; WILD TYPE;

ACIDOSIS, LACTIC; ANIMALS; BEHAVIOR, ANIMAL; CELL RESPIRATION; DICHLOROACETATE; DISEASE MODELS, ANIMAL; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX IV; FEMALE; GENE EXPRESSION; GENES, MITOCHONDRIAL; HUMANS; LACTIC ACID; MALE; MICE; MICE, INBRED STRAINS; MITOCHONDRIA; MITOCHONDRIAL DISEASES; SEQUENCE DELETION; TRANS-ACTIVATORS;

MUS; VASCONCELLEA CANDICANS;

EID: 77955032110     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddq228     Document Type: Article

References (29)

1. Gladden, L.B. (2004) Lactate metabolism: a new paradigm for the third millennium. J. Physiol., 558, 5-30.
2. Wallace, D.C. (1999) Mitochondrial diseases in man and mouse. Science, 283, 1482-1488.
3. Gatenby, R.A. and Gillies, R.J. (2004) Why do cancers have high aerobic glycolysis? Nat. Rev. Cancer, 4, 891-899.
4. Hsu, P.P. and Sabatini, D.M. (2008) Cancers cell metabolism: Warburg and beyond. Cell, 134, 703-707.
5. Larsson, N.-G. and Clayton, D.A. (1995) Molecular genetic aspects of human mitochondrial disorders. Ann. Rev. Genet., 29, 151-178.
6. Sato, A., Kono, T., Nakada, K., Ishikawa, K., Inoue, S., Yonekawa, H. and Hayashi, I. (2005) Gene therapy for progeny of mito-mice carrying pathogenic mtDNA by nuclear transplantation. Proc. Natl Acad. Sci. USA, 102, 16765-16770.
7. Bayona-Bafaluy, M.P., Blits, B., Battersby, B.J., Shoubridge, E.A. and Moraes, C.T. (2005) Rapid directional shift of mitochondrial DNA heteroplasmy in animal tissues by a mitochondrially targeted restriction endonuclease. Proc. Natl Acad. Sci. USA, 102, 14392-14397.
8. Minczuk, M., Papworth, M.A., Miller, J.C., Murphy, M.P. and Klug, A. (2008) Development of a single-chain, quasi-dimeric zinc-finger nuclease for the selective degradation of mutated human mitochondrial DNA. Nucleic Acid Res., 36, 3926-3938.
9. Santra, S., Gilkerson, R.W., Davidson, M. and Schon, E.A. (2004) Ketogenic treatment reduces deleted mitochondrial DNAs in cultured human cells. Ann. Neurol., 56, 662-669.
10. Grad, L.I., Sayles, L.C. and Lemire, B.D. (2005) Introduction of additional pathway for lactate oxidation in the treatment of lactic acidosis and mitochondrial dysfunction in Caenorhabditis elegans. Proc. Natl Acad. Sci. USA., 102, 18367-18372.
11. Inoue, K., Nakada, K., Ogura, A., Isobe, K., Goto, Y.-I., Nonaka, I. and Hayashi, I. (2000) Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes. Nat. Genet., 26, 176-181.
12. Holt, I.J., Harding, A.E. and Morgan-Hughes, J.A. (1998) Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature, 331, 717-719.
13. Nakada, K., Inoue, K., Ono, T., Isobe, K., Ogura, A., Goto, Y.-I., Nonaka, I. and Hayashi, I. (2001) Inter-mitochondrial complementation: mitochondria-specific system preventing mice from expression of disease phenotypes by mutant mtDNA. Nat. Med., 7, 934-940.
14. Nakada, K., Sato, A., Yoshida, K., Morita, T., Tanaka, H., Inoue, S., Yonekawa, H. and Hayashi, I. (2006) Mitochondria-related male infertility. Proc. Natl Acad. Sci. USA, 103, 15148-15153.
15. Tanaka, D., Nakada, K., Takao, K., Ogasawara, E., Kasahara, A., Sato, A., Yonekawa, H., Miyakawa, T. and Hayashi, I. (2008) Normal mitochondrial respiratory function is essential for spatial remote memory in mice. Mol. Brain, 1, 21.
16. Inoue, S., Yokota, M., Nakada, K., Miyoshi, H. and Hayashi, I. (2007) Pathogenic mitochondrial DNA-induced respiration defects in hematopoietic cells result in anemia by suppressing erythroid differentiation. FEBS Lett., 581, 1910-1916.
17. Sato, A., Nakada, K., Shitara, H., Yonekawa, H. and Hayashi, I. (2004) In vivo interaction between mitochondria carrying mtDNAs from different mouse species. Genetics, 167, 1855-1861.
18. Stacpoole, P.W. (1999) The pharmacology of dichroloacetate. Metabolism, 38, 1124-1144.
19. Kaufmann, P., Engelstad, K., Wei, Y., Jhung, S., Sano, M.C., Shungu, D.C., Millar, W.S., Hong, X., Gooch, C.L., Mao, X. et al. (2006) Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial. Neurology, 66, 324-330.
20. Wu, Z., Puigserver, P., Andersson, U., Zhang, C., Adelmant, G., Mootha, V., Troy, A., Cinti, S., Lowell, B., Scarpulla, R.C. et al. (1999) Mechanisms controlling mitochondrial biogenesis and respiration through the thermogenic coactivator PGC-1. Cell, 98, 115-124.
21. Wu, H., Kanatous, S.B., Thurmond, F.A., Gallardo, T., Isotani, E., Bassel-Duby, R. and Williams, R.S. (2002) Regulation of mitochondrial biogenesis in skeletal muscle by CaMK. Science, 296, 349-352.
22. Larsson, N.-G., Wang, J., Wilhelmsson, H., Oldfors, A., Rustin, P., Lewandoski, M., Barsh, G.S. and Clayton, D.A. (1998) Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice. Nat. Genet., 18, 231-236.
23. Jackson, D.C. (2004) Surviving extreme lactic acidosis: the role of calcium lactate formation in the anoxic turtle. Respir. Physiol. Neurobiol., 144, 173-178.
24. Hashimoto, T., Hussien, R., Oommen, S., Gohil, K. and Brooks, G.A. (2007) Lactate sensitive transcription factor network in L6 cells: activation of MCT1 and mitochondrial biogenesis. FASEB J., 21, 2602-2612.
25. Alam, T.i., Kanki, T., Muta, T., Ukaji, K., Nakayama, H., Takio, K., Hamasakli, N. and Kang, D. (2003) Human mitochondrial DNA is packaged with TFAM. Nucleic Acids Res., 31, 1640-1645.
26. Goto, Y.-I., Nonaka, I. and Horai, S. (1990) A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature, 348, 651-653.
27. Yasukawa, T., Suzuki, T., Ishii, N., Ohta, S. and Watanabe, K. (2001) Wobble modification defect in tRNA disturbs codon-anticodon interaction in a mitochondrial disease. EMBO J., 20, 4794-4802.
28. Kirino, Y., Goto, Y.-I., Campos, Y., Arenas, J. and Suzuki, T. (2005) Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease. Proc. Natl Acad. Sci. USA, 102, 7127-7132.
29. Le, A., Cooper, C.R., Gouw, A.M., Dinavahi, R., Maitra, A., Deck, L.M., Royer, R.E., Vander Jagt, D.L., Semenza, G.L. and Dang, C.V. (2010) Inhibition of lactate dehydrogenase A induces oxidative stress and inhibits tumor progression. Proc. Natl Acad. Sci. USA, 107, 2037-2042.