Transmitochondrial mice as models for mitochondrial DNA-based diseases

Experimental Animals

Volumn 60, Issue 5, 2011, Pages 421-431

  Nakada, Kazuto ^a   Hayashi, Jun Ichi ^a  

^a UNIVERSITY OF TSUKUBA   (Japan)

Author keywords

Mitochondria; Mitochondrial diseases; Mitochondrial DNA mutation; Mitochondrial respiration defects; Model mice

Indexed keywords

CALCIUM CALMODULIN DEPENDENT PROTEIN KINASE II; CYTOCHROME C OXIDASE; DICHLOROACETIC ACID; MITOCHONDRIAL DNA; MITOCHONDRIAL TRANSCRIPTION FACTOR A;

CELL NUCLEUS TRANSPLANTATION; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; DISEASE MODEL; GENE THERAPY; HOMOPLASY; HUMAN; KEARNS SAYRE SYNDROME; LACTIC ACIDOSIS; LONG TERM MEMORY; MALE INFERTILITY; MELAS SYNDROME; MERRF SYNDROME; MISSENSE MUTATION; MITOCHONDRIAL DNA DISORDER; MITOCHONDRIAL RESPIRATION; NARP SYNDROME; NONHUMAN; OLIGOSPERMIA; REVIEW; SOMATIC MUTATION; SPATIAL MEMORY;

ANIMALS; DISEASE MODELS, ANIMAL; DNA, MITOCHONDRIAL; EMBRYONIC STEM CELLS; HUMANS; INFERTILITY, MALE; MALE; MEMORY DISORDERS; MICE; MITOCHONDRIAL DISEASES; MUTATION; NUCLEAR TRANSFER TECHNIQUES; ZYGOTE;

ANIMALIA; MUS; VASCONCELLEA CANDICANS;

EID: 80155155905     PISSN: 13411357     EISSN: None     Source Type: Journal    
DOI: 10.1538/expanim.60.421     Document Type: Review

References (49)

1. Austin, S.A., Vriesendorp, F.J., Thandroyen, F.T., Hecht, J.T., Jones, O.T., and Johns, D.R. 1998. Expanding the phenotype of the 8344 transfer RNAlysine mitochondrial DNA mutation. Neurology 51: 1447-1450.
2. Bayona-Bafaluy, M.P., Blits, B., Battersby B.J., Shoubridge, E.A., and Moraes, C.T. 2005. title typecontributorRapid directional shift of mitochondrial DNA heteroplasmy in animal tissues by a mitochondrially targeted restriction endonuclease/title. Proc. Natl Acad. Sci. U.S.A. 102: 14392-14397.
3. Chomyn, A., Meola, G., Bresolin, N., Lai, S.T., Scarlato, G., and Attardi, G. 1991. In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria. Mol. Cell. Biol. 11: 2236-2244.
4. Clayton, D.A. 1982. Replication of animal mitochondrial DNA. Cell 28: 693-705.
5. Clayton, D.A. 1984. Transcription of the mammalian mitochondrial genome. Annu. Rev. Biochem. 53: 573-594.
6. Dubeau, F., De Stefano, N., Zifkin, B.G., Arnold, D.L., and Shoubridge, E.A. 2000. Oxidative phosphorylation defect in the brains of carriers of the tRNAleu(UUR) A3243G mutation in a MELAS pedigree. Ann. Neurol. 47: 179-185.
7. Gatenby, R.A. and Gillies, R.J. 2004. Why do cancers have high aerobic glycolysis? Nat. Rev. Cancer 4: 891-899.
8. Gladden, L.B. 2004. Lactate metabolism: a new paradigm for the third millennium. J. Physiol. 558: 5-30.
9. 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. U.S.A. 102: 18367-18372.
10. Graham, B.H., Waymire, K.G., Trounce, I.A., MacGreqor, G.R., and Wallace, D.C. 1997. A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator. Nat. Genet. 16: 226-234.
11. Hayashi, J.-I., Ohta, S., Kikuchi, A., Goto, Y.-I., and Nonaka, I. 1991. Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction. Proc. Natl. Acad. Sci. U.S.A. 88: 10614-10618.
12. Holt, I.J., Harding, A., and Morgan-Hughes, J.A. 1988. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 331: 717-719.
13. Holt, I.J., Harding, A.E., Petty, R.K., and Morgan-Hughes, J.A. 1990. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am. J. Hum. Genet. 46: 428-433.
14. Howard, J. 1997. Molecular motors: structural adaptations to cellular functions. Nature 389: 561-567.
15. Hsu, P.P. and Sabatini, D.M. 2008. Cancers cell metabolism: warburg and beyond. Cell 134: 703-707.
16. Inoue, K., Nakada, K., Ogura, A., Isobe, K., Goto, Y.-I., Nonaka, I., and Hayashi, J.-I. 2000. Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes. Nat. Genet. 26: 176-181.
17. Inoue, S.-I., Yokota, M., Nakada, K., Miyoshi, H., and Hayashi, J.-I. 2007. Pathogenic mitochondrial DNA-induced respiration defects in hematopoietic cells result in anemia by suppressing erythroid differentiation. FEBS Lett. 581: 1910-1916.
18. Ishikawa, K., Takenaga, K., Akimoto, M., Koshikawa, N., Yamaguchi, A., Imanishi, H., Nakada, K., Honma, Y., and Hayashi, J.-I. 2008. ROS-generating mitochondrial DNA mutations can regulate tumor cell metastasis. Science 320: 661-664.
19. Jackson, D.C. 2004. Surviving extreme lactic acidosis: the role of calcium lactate formation in the anoxic turtle. Respir. Physiol. Neurobiol. 144: 173-178.
20. Kasahara, A., Ishikawa, K., Yamaoka, M., Ito, M., Watanabe, N., Akimoto, M., Sato, A., Nakada, K., Endo, H., Suda, Y., Aizawa, S.-I., and Hayashi, J.-I. 2006. Generation of trans-mitochondrial mice carrying homoplasmic mtDNAs with a missense mutation in a structural gene using ES cells. Hum. Mol. Genet. 15: 871-881.
21. King, M.P., Koga, Y., Davidson, M., and Schon, E.A. 1992. Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Mol. Cell. Biol. 12: 480-490.
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. Li, Y., Huang, T.T., Carlson, E.J., Melov, S., Ursell, P.C., Olson, J.L., Noble, L.J., Yoshimura, M.P., Berger, C., Chan, P.H., Wallace, D.C., and Epstein, C.J. 1995. Dilated cardiomyopathy and neonatal lethality in mutant mice lacking manganese superoxide dismutase. Nat. Genet. 11: 376-381.
24. Melone, M.A., Tessa, A., Petrini, S., Lus, G., Sampaolo, S., di Fede, G., Santorelli, F.M., and Cotrufo, R. 2004. Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype. Arch. Neurol. 61: 269-272.
25. 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.
26. Nakada, K., Inoue, K., Chen, C.S., Nonaka, I., Goto, Y.-I., and Hayashi, J.-I. 2001. Correlation of functional and ultrastructural abnormalities of mitochondria in mouse heart carrying a pathogenic mutant mtDNA with a 4696-bp deletion. Biochem. Biophys. Res. Commun. 288: 901-907.
27. Nakada, K., Inoue, K., Ono, T., Isobe, K., Ogura, A., Goto, Y.-I., Nonaka, I., and Hayashi, J.-I. 2001. Inter-mitochondrial complementation: Mitochondria-specific system preventing mice from expression of disease phenotypes by mutant mtDNA. Nat. Med. 7: 924-939.
28. Nakada, K., Sato, A., Sone, H., Kasahara, A., Ikeda, K., Kagawa, Y., Yonekawa, H., and Hayashi, J.-I. 2004. Accumulation of pathogenic DeltamtDNA induced deafness but not diabetic phenotypes in mito-mice. Biochem. Biophys. Res. Commun. 323: 175-184.
29. Nakada, K., Sato, A., Yoshida, K., Morita, T., Tanaka, H., Inoue, S.-I., Yonekawa, H., and Hayashi, J.-I. 2006. Mitochondria-related male infertility. Proc. Natl. Acad. Sci. U.S.A. 103: 15148-15153.
30. Nakai, A., Goto, Y.-I., Fujisawa, K., Shigematsu, Y., Kikawa, Y., Konishi, Y., Nonaka, I., and Sudo, M. 1994. Diffuse leukodystrophy with a large-scale mitochondrial DNA deletion. Lancet 343: 1397-1398.
31. Nelson, I., Hanna, M.G., Alsanjari, N., Scaravilli, F., Morgan-Hughes, J.A., and Harding, A.E. 1995. A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological, and molecular genetic study. Ann. Neurol. 37: 400-403.
32. Ogasawara, E., Nakada, K., and Hayashi, J.-I. 2010. Lactic acidemia in the pathogenesis of mice carrying mitochondrial DNA with a deletion. Hum. Mol. Genet. 19: 3179-3189.
33. Roubertoux, P.L., Sluyter, F., Carlier, M., Marcet, B., Maarouf-Veray, F., Chérif, C., Marican, C., Arrechi, P., Godin, F., Jamon, M., Verrier, B., and Cohen-Salmon, C. 2003. Mitochondrial DNA modifies cognition in interaction with the nuclear genome and age in mice. Nat. Genet. 35: 65-69.
34. 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.
35. Sato, A., Kono, T., Nakada, K., Ishikawa, K., Inoue, S.-I., Yonekawa, H., and Hayashi, J.-I. 2005. Gene therapy for progeny of mito-mice carrying pathogenic mtDNA by nuclear transplantation. Proc. Natl. Acad. Sci. U.S.A. 102: 16765-16770.
36. Sato, A., Nakada, K., Shitara, H., Kasahara, A., Yonekawa, H., and Hayashi, J-I. Deletion-mutant mtDNA increases in somatic tissues but decreases in female germ cells with age. 2007. Genetics 177: 2031-2037.
37. Silva, J.P., Kohler, M., Graff, C., Oldfors, A., Magnuson, M.A., Berggren, P.O., and Larsson, N.G. Impaired insulin secretion and beta-cell loss in tissue-specific knockout mice with mitochondrial diabetes. 2000. Nat. Genet. 26: 336-340.
38. Skuder, P., Plomin, R., McClearn, G.E., Smith, D. L., Vignetti, S., Chorney, M.J., Chorney, K., Kasarda, S., Thompson, L.A., Detterman, D.K., Petrill, S.A., Daniels, J., Owen, M.J., and McGuffin, P. 1995. A polymorphism in mitochondrial DNA associated with IQ? Intelligence 21: 1-11.
39. Sorensen, L., Ekstrand, M., Silva, J.P., Lindqvist, E., Xu, B., Rustin, P., Olson, L., and Larrson, N.G. Late-onset corticohippocampal neurodepletion attributable to catastrophic failure of oxidative phosphorylation in MILON mice. 2001. J. Neurosci. 21: 8082-8090.
40. Stacpoole, P.W. 1999. The pharmacology of dichroloacetate. Metabolism 38: 1124-1144.
41. Tanaka, D., Nakada, K., Takao, K., Ogasawara, E., Kasahara, A., Sato, A., Yonekawa, H., Miyakawa, T., and Hayashi, J.-I. 2008. Normal mitochondrial respiratory function is essential for spatial remote memory in mice. Mol. Brain 1: 21.
42. Tysoe, C., Robinson, D., Brayne, C., Dening, T., Paykel, E.S., Huppert, F.A., and Rubinsztein, D.C. 1996. The tRNA(Gln) 4336 mitochondrial DNA variant is not a high penetrance mutation which predisposes to dementia before the age of 75 years. J. Med. Genet. 33: 1002-1006.
43. Uusimaa, J., Moilanen, J.S., Vainionpää, L., Tapanainen, P., Lindholm, P., Nuutinen, M., Löppönen, T., Mäki-Torkko, E., Rantala, H., and Majamaa, K. 2007. Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children. Ann. Neurol. 62: 278-287.
44. Varlamov, D.A., Kudin, A.P., Vielhaber, S., Schroder, R., Sassen, R., Becker, A., Kunz, D., Haug, K., Rebstock, J., Heils, A., Elger, C.E., and Kunz, W.S. 2002. Metabolic consequences of a novel missense mutation of the mtDNA COI gene. Hum. Mol. Genet. 11: 1797-1805.
45. Wallace, D.C. 1999. Mitochondrial diseases in man and mouse. Science 283: 1482-1488.
46. Wang, F., Chen, L., Arcucci, O., Harvey, E.V., Bowers, B., Xu, Y., Hammer, J.A. 3rd, and Sellers, J.R. 2000. Effect of ADP and ionic strength on the kinetic and motile properties of recombinant mouse myosin V. J. Biol. Chem. 275: 4329-4335.
47. Wang, J., Wilhelmsson, H., Graff, C., Li, H., Oldfors, A., Rustin, P., Bruning, J.C., Kahn, C.R., Clayton, D.A., Barsh, G.S., Thoren, P., and Larsson, N.G. 1999. Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression. Nat. Genet. 21: 133-137.
48. Yokota, M., Shitara, H., Hashizume, O., Ishikawa, K., Nakada, K., Ishii, R., Taya, C., Takenaga, K., Yonekawa, H., and Hayashi, J.-I. 2010. Generation of trans-mitochondrial mito-mice by the introduction of a pathogenic G13997A mtDNA from highly metastatic lung carcinoma cells. FEBS Lett. 584: 3943-3948.
49. Yoneda, M., Miyatake, T., and Attardi, G. 1994. Complementation of mutant and wild-type human mitochondrial DNAs coexisting since the mutation event and lack of complementation of DNAs introduced separately into a cell within distinct organelles. Mol. Cell. Biol. 13: 2699-2712