Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium

Journal of Biological Chemistry

Volumn 278, Issue 6, 2003, Pages 4145-4150

  Ghelli, Anna ^a   Zanna, Claudia ^a   Porcelli, Anna Maria ^a   Schapira, Anthony H V ^b   Martinuzzi, Andrea ^c   Carelli, Valerio ^a   Rugolo, Michela ^a  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^c SCIENTIFIC INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CELLS; DNA; GROWTH KINETICS;

APOPTOTIC CASCADES;

BIOCHEMISTRY;

ADENOSINE TRIPHOSPHATE; CELL NUCLEUS DNA; CYTOCHROME C; GALACTOSE; GLUCOSE; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

AEROBIC METABOLISM; APOPTOSIS; ARTICLE; BIOSYNTHESIS; CELL DEATH; CELL GROWTH; CELL VIABILITY; CENTRAL SCOTOMA; CHROMATIN CONDENSATION; CONTROLLED STUDY; CULTURE MEDIUM; CYBRID; DNA DAMAGE; ENZYME RELEASE; ENZYME SUBUNIT; GENE LOCATION; GENE MUTATION; GLYCOLYSIS; HEREDITARY OPTIC ATROPHY; HUMAN; HUMAN CELL; HUMAN CELL CULTURE; MITOCHONDRIAL RESPIRATION; MITOCHONDRION; OSTEOSARCOMA; POINT MUTATION; PRIORITY JOURNAL; RESPIRATORY CHAIN; SENSITIZATION; STRESS; CELL CULTURE; ENZYMOLOGY; GENETICS; LEBER HEREDITARY OPTIC NEUROPATHY; METABOLISM; MUTATION; PATHOLOGY; PHYSIOLOGY;

APOPTOSIS; CELLS, CULTURED; CULTURE MEDIA; CYTOCHROME C GROUP; GALACTOSE; HUMANS; MITOCHONDRIA; MUTATION; OPTIC ATROPHY, HEREDITARY, LEBER;

EID: 0037423202     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.M210285200     Document Type: Article

References (44)

1. Wallace, D. C., Singh, G., Lott, M. T., Hodge, J., Schurr, T. G., Lezza, A. M., Elsas, L. J. D., and Nikoskelainen, E. K. (1988) Science 242, 1427-1430
2. Howell, N. (1999) Int. Rev. Cytol. 186, 49-116
3. Brown, M. D. (1999) J. Neurol. Sci. 165, 1-5
4. Carelli, V., Ross-Cisneros, F. N., and Sadun, A. A. (2002) Neurochem. Int. 40, 573-584
5. Chinnery, P. F., Brown, D. T., Andrews, R. M., Singh-Kler, R., Riordan-Eva, P., Lindley, J., Applegarth, D. A., Turnbull, D. M., and Howell, N. (2001) Brain 124, 209-218
6. Brown, M. D., Starikovskaya, E., Derbeneva, O., Hosseini, S., Allen, J. C., Mikhailovskaya, I. E., Sukernik, R. I., and Wallace D. C. (2002) Hum. Genet. 110, 130-138
7. Kim, J. Y., Hwang, J-M., and Park, S. S. (2002) Ann. Neurol. 51, 630-634
8. Valentino, M. L., Avoni, P., Barboni, P., Pallotti, F., Rengo, C., Torroni, A., Bellan, M., Baruzzi, A., and Carelli, V. (2002) Ann. Neurol. 51, 774-778
9. Carelli, V., Ghelli, A., Ratta, M., Bacchilega, E., Sangiorgi, R., Mancini, R., Leuzzi, V., Cortelli, P., Montagna, P., Lugaresi, E., and Degli Esposti, M. (1997) Neurology 48, 1623-1632
10. Carelli, V., Ghelli, A., Bucchi, L., Montagna, P., De Negri, A., Leuzzi, V., Carducci, C., Lenaz, G., Lugaresi, E., and Degli Esposti, M. (1999) Ann. Neurol. 45, 320-328
11. Vergani, L., Martinuzzi, A., Carelli, V., Cortelli, P., Montagna, P., Schievano, G., Carrozzo, R., Angelini, C., and Lugaresi, E. (1995) Biochem. Biophys. Res. Commun. 210, 880-888
12. Brown, M. D., Trounce, I. A., Jun, A. S., Allen, J. C., and Wallace, D. C. (2000) J. Biol. Chem. 275, 39831-39836
13. Wong, A., and Cortopassi, G. (1997) Biochem. Biophys. Res. Commun. 239, 139-145
14. Wong, A., Cavelier, L., Collins-Schram, H. E., Selding, M. F., McGrogan, M., Savontaus, M. L., and Cortopassi, A. G. (2002) Hum. Mol. Genet. 11, 431-438
15. Carelli, V., Napoli, E., Valente, L., Valentino, M. L., and Martinuzzi, A. (2002) Neurology 58, A507
16. Carelli, V. (2002) in Mitochondrial Disorders in Neurology 2, Blue Books of Practical Neurology (Schapira, A. H. V., and DiMauro, S., eds), pp. 115-142, Butterworth-Heinemann Woburn, MA
17. Howell, N. (1997) J. Bioenerg. Biomembr. 29, 165-173
18. Kerrigan, L. A., Zack, D. J., Quigley, H. A., Smith, S. D., and Pease, M. E. (1997) Arch. Ophthalmol. 115, 1031-1035
19. Hofnaus, G., Johns, D. R., Hurko, O., Attardi, G., and Chomyn, A. (1996) J. Biol. Chem. 271, 13155-13161
20. Robinson, B. H., Petrova-Benedict, R., Buncic, J. R., and Wallace, D. C. (1992) Biochem. Med. Metab. Biol. 48, 122-126
21. Robinson B. H. (1996) Methods Enzymol. 264, 454-464
22. Adrian, C., and Martin, S. J. (2001) Trends Biochem. Sci. 26, 390-397
23. Cock, H. R., Tabrizi, S. J., Cooper, J. M., and Schapira, A. H. V. (1998) Ann. Neurol. 44, 187-193
24. Danielson, S. R., Wong, A., Carelli, V., Martinuzzi, A., Schapira, A. H. V., and Cortopassi, A. G. (2002) J. Biol. Chem. 277, 5810-5815
25. Carelli, V., Vergani, L., Bernazzi, B., Zampieron, C., Bucchi, L., Valentino, M. L., Rengo, C., Torroni, A., and Martinuzzi, A. (2002) Biochim. Biophys. Acta 1588, 7-14
26. Berridge, M. V., Tan, A. S., McCoy, K. D., and Wang, R. (1996) Biochemica 4, 15-20
27. Porcelli, A. M., Pinton, P., Ainscow, E. K., Chiesa, A., Rugolo, M., Rutter G. A., and Rizzuto R. (2001) Meth. Cell Biol. 65, 353-380
28. Gorman, A., McCarthy, J., Funicane, D., Reville, W., and Cotter, T. (1996) in Techniques in Apoptosis: A User's Guide (Cotter, T. G. and Martin, S. J., eds), pp. 2-20, Portland Press Ltd., London
29. Murgia, M., Pizzo, P., Sandonà, D., Zanovello, P., Rizzuto, R., and Di Virgilio F. (1992) J. Biol. Chem. 267, 10939-10941
30. Bradford, M. M. (1976) Anal. Biochem. 72, 248-254
31. Holley, R. W., and Kiernan, J. A. (1974) Proc. Natl. Acad. Sci. U. S. A., 71, 2942-2945
32. Shim, H., Chun, Y. S., Lewis, B. C., and Dang, C. V. (1998) Proc. Natl. Acad. Sci. U. S. A. 95, 1511-1516
33. Vander Heiden, M. G., Plas, D. R., Rathmell, J. C., Fox, C. J., Harris, M. H., and Thompson, C. B. (2001) Mol. Cell. Biol. 21, 5899-5912
34. Plas, D. R., and Thompson, C. B. (2002) Trends Endocrinol. Metab. 13, 74-78
35. Desager, S., and Martinou, J.-C. (2000) Trends Cell Biol. 10, 369-377
36. Adams, J. M., and Cory, S. (1998) Science 281, 1322-1326
37. Reed, J. C. (1997) Nature 387, 773-776
38. Saikumar, P., Dong, Z., Patel, Y., Hall, K., Hopfer, U., Weinberg, J. M., and Venkatachalam, M. A. (1998) Oncogene 17, 3401-3415
39. Barrientos, A., and Moraes, C. T. (1999) J. Biol. Chem. 274, 16188-16197
40. Fontaine, E., Eriksson, O., Ichas, F., and Bernardi, P. (1998) J. Biol. Chem. 273, 12662-12668
41. Fontaine, E., Ichas, F., and Bernardi, P. (1998) J. Biol. Chem. 273, 25734-25740
42. Shrinivasula, S. M., Ahmad, M., Fernandes-Alnemri, T., Litwack, G., and Alnemri, E. S. (1996) Proc. Natl. Acad. Sci. U. S. A. 93, 14486-14491
43. Li, H., Zhu, H., Xu, C. J., and Yuan, J. (1998) Cell 94, 491-501
44. Luo, X., Budihardjo I, Zou, H., Slaughter, C., and Wang, X. (1998) Cell 94, 481-490