Impact on oxidative phosphorylation of immortalization with the telomerase gene

Neuromuscular Disorders

Volumn 17, Issue 5, 2007, Pages 368-375

  Aure K ^a,b   Mamchaoui, K ^a,b   Frachon, P ^a,b   Butler Browne, G S ^a,b   Lombes A ^a,b,c   Mouly, V ^a,b  

^a INSERM   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Human fibroblasts; Immortalization; Mitochondrial disease; Telomerase

Indexed keywords

GALACTOSE; GLUCOSE; TELOMERASE;

ARTICLE; CELL IMMORTALIZATION; CELL POPULATION; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME ACTIVITY; ENZYME ANALYSIS; FIBROBLAST; GENETIC DISORDER; HUMAN; HUMAN TISSUE; OXIDATIVE PHOSPHORYLATION; PRIORITY JOURNAL; RESPIRATORY TRACT DISEASE;

ADENOSINE TRIPHOSPHATE; ADULT; CELL SURVIVAL; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; FIBROBLASTS; GLUCOSE; HUMANS; MIDDLE AGED; MITOCHONDRIAL MYOPATHIES; OXIDATIVE PHOSPHORYLATION; SKIN; TELOMERASE; TIME FACTORS; TRANSDUCTION, GENETIC;

EID: 34247854912     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2007.01.019     Document Type: Article

References (26)

1. Munnich A., and Rustin P. Clinical spectrum and diagnosis of mitochondrial disorders. Am J Med Genet 106 (2001) 4-17
2. Thorburn D.R., Sugiana C., Salemi R., et al. Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders. Biochim Biophys Acta 1659 (2004) 121-128
3. van den Heuvel L.P., Smeitink J.A., and Rodenburg R.J.T. Biochemical examination of fibroblasts in the diagnosis and research of oxidative phosphorylation (OXPHOS) defects. Mitochondrion 4 (2004) 395-401
4. DiMauro S. Mitochondrial diseases. Biochim Biophys Acta 1658 (2004) 80-88
5. Brown R.M., and Brown G.K. Complementation analysis of systemic cytochrome oxidase deficiency presenting as Leigh syndrome. J Inherit Metab Dis 19 (1996) 752-760
6. Hunt J.D. Evaluation of phenotypic alteration by microcell-mediated chromosome transfer. Anal Biochem 238 (1996) 107-116
7. Zhu Z., Yao J., Johns T., et al. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nat Genet 20 (1998) 337-343
8. Ogilvie I., Kennaway N.G., and Shoubridge E.A. A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. J Clin Invest 115 (2005) 2784-2792
9. Goldstein S. Replicative senescence: the human fibroblast comes of age. Science 249 (1990) 1129-1133
10. Antonicka H., Mattman A., Carlson C.G., et al. Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. Am J Hum Genet 72 (2003) 101-114
11. Vaziri H., and Benchimol S. Reconstitution of telomerase activity in normal human cells leads to elongation of telomeres and extended replicative life span. Curr Biol 8 (1998) 279-282
12. Bodnar A.G., Ouellette M., Frolkis M., et al. Extension of life-span by introduction of telomerase into normal human cells. Science 279 (1998) 349-352
13. Jiang X.R., Jimenez G., Chang E., et al. Telomerase expression in human somatic cells does not induce changes associated with a transformed phenotype. Nat Genet 21 (1999) 111-114
14. Wright W.E., Pereira-Smith O.M., and Shay J.W. Reversible cellular senescence: implications for immortalization of normal human diploid fibroblasts. Mol Cell Biol 9 (1989) 3088-3092
15. Petrova-Benedict R., Buncic J.R., Wallace D.C., and Robinson B.H. Selective killing of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblasts. J Inherit Metab Dis 15 (1992) 943-944
16. De Lonlay P., Mugnier C., Sanlaville D., et al. Cell complementation using Genebridge 4 human: rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes. Hum Mol Genet 11 (2002) 3273-3281
17. Labarthe F., Dobbelaere D., Devisme L., et al. Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency. J Hepatol 43 (2005) 333-341
18. Robinson B.H., Petrova-Benedict R., Buncic J.R., and Wallace D.C. Nonviability of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblasts. Biochem Med Metab Biol 48 (1992) 122-126
19. Enriquez J.A., Cabezas-Herrera J., Bayona-Bafaluy M.P., and Attardi G. Very rare complementation between mitochondria carrying different mitochondrial DNA mutations points to intrinsic genetic autonomy of the organelles in cultured human cells. J Biol Chem 275 (2000) 11207-11215
20. Salviati L., Hernandez-Rosa E., Walker W.F., et al. Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations. Biochem J 363 (2002) 321-327
21. Bischof O., Schwamborn K., Martin N., et al. The E3 SUMO ligase PIASy is a regulator of cellular senescence and apoptosis. Mol Cell 22 (2006) 783-794
22. Shay J.W., Wright W.E., and Werbin H. Defining the molecular mechanisms of human cell immortalization. Biochim Biophys Acta 1072 (1991) 1-7
23. Antonicka H., Leary S.C., Guercin G.H., et al. Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency. Hum Mol Genet 12 (2003) 2693-2702
24. Coenen M.J., Antonicka H., Ugalde C., et al. Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. N Engl J Med 351 (2004) 2080-2086
25. Ramirez R.D., Morales C.P., Herbert B.S., et al. Putative telomere-independent mechanisms of replicative aging reflect inadequate growth conditions. Genes Dev 15 (2001) 398-403
26. van Waarde-Verhagen M.A., Kampinga H.H., and Linskens M.H. Continuous growth of telomerase-immortalised fibroblasts: how long do cells remain normal?. Mech Ageing Dev 127 (2006) 85-87