Loss of mutant mitochondrial DNA harboring the MELAS A3243G mutation in human cybrid cells after cell-cell fusion with normal tissue-derived fibroblast cells

International Journal of Molecular Medicine

Volumn 25, Issue 1, 2010, Pages 153-158

  Yano, Takamitsu ^a,c   Tanaka, Masashi ^b   Fukuda, Noboru ^c   Ueda, Takuya ^a   Nagase, Hiroki ^c,d  

^a UNIVERSITY OF TOKYO   (Japan)

^b TOKYO METROPOLITAN INSTITUTE OF GERONTOLOGY   (Japan)

^c NIHON UNIVERSITY   (Japan)

^d ROSWELL PARK CANCER INSTITUTE   (United States)

Author keywords

A3243G mutation; And stroke like episodes; Cell fusion; Cybrid cells; Encephalomyopathy; Lactic acidosis; Mitochondrial DNA; Mitochondrial myopathy; Non tumorigenic fibroblast cell; Osteosarcoma

Indexed keywords

HYGROMYCIN; MITOCHONDRIAL DNA; MITOCHONDRIAL RNA; TRANSFER RNA;

ARTICLE; CELL CULTURE; CELL FUSION; CELL MUTANT; CONTROLLED STUDY; DNA REPLICATION; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; HYBRID CELL; MELAS SYNDROME; MITOCHONDRIAL MEMBRANE POTENTIAL; MOLECULAR CLONING; OSTEOSARCOMA; PRIORITY JOURNAL; SKIN FIBROBLAST;

BONE NEOPLASMS; CELL FUSION; CELL LINE; CELL LINE, TUMOR; CLONE CELLS; DNA, MITOCHONDRIAL; FIBROBLASTS; HUMANS; HYBRID CELLS; LESCH-NYHAN SYNDROME; MEMBRANE POTENTIAL, MITOCHONDRIAL; MITOCHONDRIA; MUTATION; OSTEOSARCOMA; SKIN;

EID: 70549105815     PISSN: 11073756     EISSN: 1791244X     Source Type: Journal    
DOI: 10.3892/ijmm_00000325     Document Type: Article

References (22)

1. Pavlakis SG, Phillis PC, DiMauro S, De Vivo DC and Rowland LP: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a distinctive clinical syndrome. Ann Neurol 16: 481-488, 1984.
2. Goto Y, Nonaka I and Horai S: A mutation in the tRNA (Leu) (UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 348: 651-653, 1990.
3. Kobayashi Y, Momoi MY, Tominaga K, Momoi T, Nihei K, Yanagisawa M, Kagawa Y and Ohta S: A point mutation in the mitochondrial tRNA (Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). Biochem Biophys Res Commun 173: 816-822, 1990.
4. King MP and Attardi G: Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation. Science 246: 500-503, 1989.
5. King MP, Koga Y, Davidson M and Schon EA: Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Mol Cell Biol 12: 480-490, 1992.
6. Park H, Davidson E and King MP: The pathogenic A3243G mutation in human mitochondrial tRNALeu(UUR) decreases the efficiency of aminoacylation. Biochemistry 42: 958-964, 2003.
7. Yasukawa T, Suzuki T, Ueda T, Ohta S and Watanabe K: Modification defect at anticodon wobble nucleotide of mitochondrial tRNAsLeu(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. J Biol Chem 275: 19198-19209, 2000.
8. Börner GV, Zeviani M, Tiranti V, Carrara F, Hoffmann S, Gerbitz KD, Lochmüller H, Pongratz D, Klopstock T, Melberg A, Holme E and Pääbo S: Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients. Hum Mol Genet 9: 467-475, 2000.
9. Martinuzzi A, Bartolomei L, Carrozzo R, Mostacciuolo M, Carbonin C, Toso V, Ciafaloni E, Shanske S, DiMauro S and Angelini C: Correlation between clinical and molecular features in two MELAS families. J Neuro Sci 113: 222-229, 1992.
10. Shanske S, Pancrudo J, Kaufmann P, Engelstad K, Jhung S, Lu J, Naini A, DiMauro S and De Vivo DC: Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implication for diagnosis. Am J Med Genet A 130: 134-137, 2004.
11. Dunbar DR, Moonie PA, Jacobs HT and Holt IJ: Different cellular backgrounds confer a marked advantage to either mutant or wild-type mitochondrial genomes. Proc Natl Acad Sci USA 92: 6562-6566, 1995.
12. Chomyn A, Martinuzzi A, Yoneda M, Daga A, Hurko O, Johns D, Lai ST, Nonaka I, Angelini C and Attardi G: MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts. Proc Natl Acad Sci USA 89: 4221-4225, 1992.
13. Yoneda M, Chomyn A, Martinuzzi A, Hurko O and Attardi G: Marked replication advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy. Proc Natl Acad Sci USA 89: 11164-11168, 1992.
14. Shoubridge EA: Segregation of mitochondrial DNAs carrying a pathogenic point mutation (tRNA(leu3243)) in cybrid cells. Biochem Biophys Res Commun 213: 189-195, 1995.
15. Sutovsky P, Moreno RD, Ramalho-Santos J, Dominko T, Simerly C and Schatten G: Ubiquitin tag for sperm mitochondria. Nature 402: 371-372, 1999.
16. Ono T, Isobe K, Nakada K and Hayashi JI: Human cells are protected from mitochondrial dysfunction by complementation of DNA products in fused mitochondria. Nat Genet 28: 272-275, 2001.
17. Moraes CT, Kenyon L and Hao H: Mechanisms of human mitochondrial DNA maintenance: The determining role of primary sequence and length over function. Mol Biol Cell 10: 3345-3356, 1999.
18. Christianson TW and Clayton DA: A tridecamer DNA sequence supports human mitochondrial RNA 3′-end formation in vitro. Mol Cell Biol 8: 4502-4509, 1988.
19. Hess JF, Parisi MA, Bennett JL and Clayton DA: Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 351: 236-239, 1992.
20. Kaufmann P, Koga Y, Shanske S, Hirano M, DiMauro S, King MP and Schon EA: Mitochondrial DNA and RNA processing in MELAS. Ann Neurol 40: 172-180, 1996.
21. Kruse B, Narasimhan N and Attardi G: Termination of transcription in human mitochondria: Identification and purification of a DNA binding protein factor that promotes termination. Cell 58: 391-397, 1989.
22. Hyvärinen AK, Pohjoismäki JLO, Reyes A, Wanrooij S, Yasukawa T, Karhunen PJ, Spelbrink JN, Holt IJ and Jacobs HT: The mitochondrial transcription termination factor mTERF modulates replication pausing in human mitochondrial DNA. Nucleic Acids Res 35: 6458-6474, 2007.