Mitochondrial respiratory dysfunction caused by a heteroplasmic mitochondrial DNA mutation blocks cellular reprogramming

Human Molecular Genetics

Volumn 24, Issue 16, 2015, Pages 4698-4709

  Yokota, Mutsumi ^a,c   Hatakeyama, Hideyuki ^a,c   Okabe, Saki ^a   Ono, Yasuha ^a   Goto, Yu Ichi ^a,b,c  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^b NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^c JAPAN AGENCY FOR MEDICAL RESEARCH AND DEVELOPMENT   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; TRANSFER RNA;

ARTICLE; CONTROLLED STUDY; EMBRYONIC STEM CELL; GENE EXPRESSION; GENETIC ASSOCIATION; HETEROPLASMY; HUMAN; MITOCHONDRIAL DNA REPLICATION; MITOCHONDRIAL RESPIRATION; MITOCHONDRION; NUCLEAR REPROGRAMMING; PATHOGENESIS; PLURIPOTENT STEM CELL; PRIORITY JOURNAL; REJUVENATION; RESPIRATORY FAILURE; SOMATIC MUTATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FEMALE; GENETICS; INDUCED PLURIPOTENT STEM CELL; MALE; METABOLISM; MUTATION;

CELLULAR REPROGRAMMING; DNA, MITOCHONDRIAL; FEMALE; HUMANS; INDUCED PLURIPOTENT STEM CELLS; MALE; MITOCHONDRIAL DISEASES; MUTATION; RNA, TRANSFER;

EID: 84939490041     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv201     Document Type: Article

References (25)

1. Schon, E.A., DiMauro, S. and Hirano, M. (2012) Human mitochondrial DNA: roles of inherited and somatic mutations. Nat. Rev. Genet., 13, 878-890.
2. Wallace, D.C. (1999) Mitochondrial diseases in man and mouse. Science, 283, 1482-1488.
3. Taylor, R.W. and Turnbull, D.M. (2005) Mitochondrial DNA mutations in human disease. Nat. Rev. Genet., 6, 389-402.
4. Suzuki, T., Nagao, A. and Suzuki, T. (2011) Human mitochondrial tRNAs: biogenesis, function, structural aspects, and diseases. Annu. Rev. Genet., 45, 299-329.
5. Goto, Y., 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.
6. Kobayashi, Y., Momoi, M.Y., Tominaga, K., Shimoizumi, H., Nihei, K., Yanagisawa, M., Kagawa, Y. and Ohta, S. (1991) Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). Am. J. Hum. Genet., 49, 590-599.
7. Attardi, G., Yoneda, M. and Chomyn, A. (1995) Complementation and segregation behavior of disease-causing mitochondrial DNA mutations in cellular model systems. Biochim. Biophys. Acta, 1271, 241-248.
8. Takahashi, K., Tanabe, K., Ohnuki, M., Narita, M., Ichisaka, T., Tomoda, K. and Yamanaka, S. (2007) Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Cell, 131, 861-872.
9. Yu, J., Vodyanik, M.A., Smuga-Otto, K., Antosiewicz-Bourget, J., Frane, J.L., Tian, S., Nie, J., Jonsdottir, G.A., Ruotti, V., Stewart, R. et al. (2007) Induced pluripotent stem cell lines derived from human somatic cells. Science, 318, 1917-1920.
10. Armstrong, L., Tilgner, K., Saretzki, G., Atkinson, S.P., Stojkovic, M., Moreno, R., Przyborski, S. and Lako, M. (2010) Human induced pluripotent stem cell lines show stress defense mechanisms and mitochondrial regulation similar to those of human embryonic stem cells. Stem Cells, 28, 661-673.
11. Prigione, A., Fauler, B., Lurz, R., Lehrach, H. and Adjaye, J. (2010) The senescence-related mitochondrial/oxidative stress pathway is repressed in human induced pluripotent stem cells. Stem Cells, 28, 721-733.
12. Folmes, C.D., Nelson, T.J., Martinez-Fernandez, A., Arrell, D. K., Lindor, J.Z., Dzeja, P.P., Ikeda, Y., Perez-Terzic, C. and Terzic, A. (2011) Somatic oxidative bioenergetics transitions into pluripotency-dependent glycolysis to facilitate nuclear reprogramming. Cell Metab., 14, 264-271.
13. Folmes, C.D., Dzeja, P.P., Nelson, T.J. and Terzic, A. (2012) Metabolic plasticity in stem cell homeostasis and differentiation. Cell Stem Cell, 11, 596-606.
14. 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.
15. Kaufmann, P., Koga, Y., Shanske, S., Hirano, M., DiMauro, S., King, M.P. and Schon, E.A. (1996) Mitochondrial DNA and RNA processing in MELAS. Ann. Neurol., 40, 172-180.
16. Fujikura, J., Nakao, K., Sone, M., Noguchi, M., Mori, E., Naito, M., Taura, D., Harada-Shiba, M., Kishimoto, I., Watanabe, A. et al. (2012) Induced pluripotent stem cells generated from diabetic patients with mitochondrial DNA A3243G mutation. Diabetologia, 55, 1689-1698.
17. Cherry, A.B., Gagne, K.E., McLoughlin, E.M., Baccei, A., Gorman, B., Hartung, O., Miller, J.D., Zhang, J., Zon, R.L., Ince, T. A. et al. (2013) Induced pluripotent stem cells with a mitochondrial DNA deletion. Stem Cells, 31, 1287-1297.
18. Folmes, C.D., Martinez-Fernandez, A., Perales-Clemente, E., Li, X., McDonald, A., Oglesbee, D., Hrstka, S.C., Perez-Terzic, C., Terzic, A. and Nelson, T.J. (2013) Disease-causing mitochondrial heteroplasmy segregated within induced pluripotent stem cell clones derived from a patient with MELAS. Stem Cells, 31, 1298-1308.
19. Hämäläinen, R.H., Manninen, T., Koivumäki, H., Kislin, M., Otonkoski, T. and Suomalainen, A. (2013) Tissue-and celltype-specific manifestations of heteroplasmic mtDNA 3243A>G mutation in human induced pluripotent stem cell-derived disease model. Proc. Natl Acad. Sci. USA, 110, E3622-E3630.
20. Xu, X., Duan, S., Yi, F., Ocampo, A., Liu, G.H. and Izpisua Belmonte, J.C. (2013) Mitochondrial regulation in pluripotent stem cells. Cell Metab., 18, 325-332.
21. Lehtinen, S.K., Hance, N., El Meziane, A., Juhola, M.K., Juhola, K.M., Karhu, R., Spelbrink, J.N., Holt, I.J. and Jacobs, H.T. (2000) Genotypic stability, segregation and selection in heteroplasmic human cell lines containing np 3243 mutant mtDNA. Genetics, 154, 363-380.
22. Yoneda, M., Chomyn, A., Martinuzzi, A., Hurko, O. and Attardi, G. (1992) Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy. Proc. Natl Acad. Sci. USA, 89, 11164-11168.
23. Okita, K., Matsumura, Y., Sato, Y., Okada, A., Morizane, A., Okamoto, S., Hong, H., Nakagawa, M., Tanabe, K., Tezuka, K. et al. (2011) A more efficient method to generate integrationfree human iPS cells. Nat. Methods, 8, 409-412.
24. Akanuma, J., Muraki, K., Komaki, H., Nonaka, I. and Goto, Y. (2000) Two pathogenic point mutations exist in the authentic mitochondrial genome, not in the nuclear pseudogene. J. Hum. Genet., 45, 337-341.
25. Tanaka, M., Takeyasu, T., Fuku, N., Li-Jun, G. and Kurata, M. (2004) Mitochondrial genome single nucleotide polymorphisms and their phenotypes in the Japanese. Ann. NY Acad. Sci., 1011, 7-20.