Restoration of mitochondrial function in cells with complex I deficiency

Annals of the New York Academy of Sciences

Volumn 1042, Issue , 2005, Pages 25-35

  Bai, Yidong ^a   Park, Jeong Soon ^a   Deng, Jian Hong ^a   Li, Youfen ^a   Hu, Peiqing ^a  

^a Mays Cancer Center at UT Health San Antonio   (United States)

Author keywords

Complex I deficiency; mtDNA mutation; NDI1; Restoration; Revertant

Indexed keywords

MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

AGING; CELL CULTURE; COMPLEX I DEFICIENCY; CONFERENCE PAPER; DEGENERATIVE DISEASE; ELECTRON TRANSPORT; ENZYME ACTIVITY; ENZYME SUBUNIT; GENE MUTATION; HUMAN; MAMMAL; MITOCHONDRION; NONHUMAN;

MAMMALIA;

EID: 22044432479     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1196/annals.1338.003     Document Type: Conference Paper

References (70)

1. NASS, S. & M. NASS. 1963. Intramitochondrial fibers with DNA characteristics. J. Cell. Biol. 19: 593-629.
2. ERNSTER, L., D. IKKOS & R. LUFT. 1959. Enzymic activities of human skeletal muscle mitochondria: a tool in clinical metabolic research. Nature 184: 1851-854.
3. HOLT, I.J., A.E. HARDING & J.A. MORGAN-HUGHES. 1988. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 331: 717-719.
4. WALLACE, D.C. et al. 1988. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 242: 1427-1430.
5. WALLACE, D.C. 1997. Mitochondrial DNA in aging and disease. Sci. Am. 277: 40-47.
6. DIMAURO, S. & E.A. SCHON. 2001. Mitochondrial DNA mutations in human disease. Am. J. Med. Genet. 106: 18-26.
7. WALLACE, D.C. 2001. A mitochondrial paradigm for degenerative diseases and ageing. Novartis Found. Symp. 235: 247-263; discussion 263-266.
8. POLYAK, K. et al. 1998. Somatic mutations of the mitochondrial genome in human colorectal tumours. Nat. Genet. 20: 291-293.
9. PENTA, J. S. et al. 2001. Mitochondrial DNA in human malignancy. Mutat. Res. 488: 119-133.
10. HOCHHAUSER, D. 2000. Relevance of mitochondrial DNA in cancer. Lancet 356: 181-182.
11. LOEFFEN, J.L. et al. 2000. Isolated complex I deficiency in children: clinical, biochemical and genetic aspects. Hum. Mutat. 15: 123-134.
12. SCHAPIRA, A.H. 1998. Human complex I defects in neurodegenerative diseases. Biochim. Biophys. Acta 1364: 261-270.
13. LENAZ, G. et al. 1997. Mitochondrial complex I defects in aging. Mol. Cell. Biochem. 174: 329-333.
14. HUOPONEN, K. 2001. Leber hereditary optic neuropathy: clinical and molecular genetic findings. Neurogenetics 3: 119-125.
15. LEBER, T. 1871. Uber hereditare und congenital-angelegte Sehnervenleiden. Graefe's Arch. Ophthalmol. 17: 249-291.
16. CHALMERS, R.M. & A.H. SCHAPIRA. 1999. Clinical, biochemical and molecular genetic features of Leber's hereditary optic neuropathy. Biochim. Biophys. Acta 1410: 147-158.
17. HOWELL, N. et al. 1992. Mitochondrial gene segregation in mammals: is the bottleneck always narrow? Hum. Genet. 90: 117-120.
18. HUOPONEN, K. et al. 1991. A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. Am. J. Hum. Genet. 48: 1147-1153.
19. MACKEY, D. & N. HOWELL. 1992. A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology. Am. J. Hum. Genet. 51: 1218-1228.
20. DE VRIES, D.D. et al. 1996. Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. Am. J. Hum. Genet. 58: 703-711.
21. JUN, A.S., M.D. BROWN & D.C. WALLACE. 1994. A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proc. Natl. Acad. Sci. USA 91: 6206-6210.
22. CAMPOS, Y. et al. 1997. Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene. Biochem. Biophys. Res. Commun. 238: 323-325.
23. SANTORELLI, F.M. et al. 1997. Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. Biochem. Biophys. Res. Commun. 238: 326-328.
24. PENISSON-BESNIER, I. et al. 2000. Recurrent brain hematomas in MELAS associated with an ND5 gene mitochondrial mutation. Neurology 55: 317-318.
25. CORONA, P. et al. 2001. A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients. Ann. Neurol. 49: 106-110.
26. ANDREU, A.L. et al. 1999. Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene. Ann. Neurol. 45: 820-823.
27. MAECHLER, P. & C.B. WOLLHEIM. 2001. Mitochondrial function in normal and diabetic beta-cells. Nature 414: 807-812.
28. KALININ, V.N. et al. 1995. A new point mutation in the mitochondrial gene ND1, detected in a patient with type II diabetes. Genetika 31: 1180-1182.
29. YAGI, T. et al. 2001. NADH dehydrogenases: from basic science to biomedicine. J. Bioenerg. Biomembr. 33: 233-242.
30. FEARNLEY, I.M., et al. 2001. Grim-19, a cell death regulatory gene product, is a subunit of bovine mitochondrial nadh:ubiquinone oxidoreductase (complexI). J. Biol. Chem. 276: 38345-38348.
31. CHOMYN, A. et al. 1985. Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase. Nature 314: 592-597.
32. CHOMYN, A. et al. 1986. URF6, last unidentified reading frame of human mtDNA, codes for an NADH dehydrogenase subunit. Science 234: 614-618.
33. GUENEBAUT, V. et al. 1997. Three-dimensional structure of NADH-dehydrogenase from Neurospora crassa by electron microscopy and conical tilt reconstruction. J. Mol. Biol. 265: 409-418.
34. FRIEDRICH, T. et al 1993. Attempts to define distinct parts of NADH:ubiquinone oxidoreductase (complex I). J. Bioenerg. Biomembr. 25: 331-337.
35. HOFHAUS, G., H. WEISS & K. LEONARD. 1991. Electron microscopic analysis of the peripheral and membrane parts of mitochondrial NADH dehydrogenase (complex I). J. Mol. Biol. 221: 1027-1043.
36. WEISS, H. et al. 1991. The respiratory-chain NADH dehydrogenase (complex I) of mitochondria. Eur. J. Biochem. 197: 563-576.
37. GRIGORIEFF, N. 1999. Structure of the respiratory NADH:ubiquinone oxidoreductase (complex I). Curr. Opin. Struct. Biol. 9: 476-483.
38. GRIGORIEFF, N. 1998. Three-dimensional structure of bovine NADH:ubiquinone oxidoreductase (complex I) at 22 A in ice. J. Mol. Biol. 277: 1033-1046.
39. EARLEY, F.G. et al. 1987. Photolabelling of a mitochondrially encoded subunit of NADH dehydrogenase with [3H]dihydrorotenone. FEBS Lett. 219: 108-112.
40. BROWN, M.D. et al. 2000. Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation. J. Biol. Chem. 275: 39831-39836.
41. HOFHAUS, G. et al. 1996. Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy. J. Biol. Chem. 271: 13155-13161.
42. HOFHAUS, G. & G. ATTARDI. 1995. Efficient selection and characterization of mutants of a human cell line which are defective in mitochondrial DNA-encoded subunits of respiratory NADH dehydrogenase. Mol. Cell. Biol. 15: 964-974.
43. BAI, Y. et al. 2004. Genetic and functional analysis of mitochondrial DNA-encoded complex I genes. Ann. N.Y. Acad. Sci. 1011: 272-283.
44. CHOMYN, A. 1996. In vivo labeling and analysis of human mitochondrial translation products. Methods Enzymol. 264: 197-211.
45. BAI, Y. & G. ATTARDI. 1998. The mtDNA-encoded ND6 subunit of mitochondrial NADH dehydrogenase is essential for the assembly of the membrane arm and the respiratory function of the enzyme. EMBO J. 17: 4848-4858.
46. BAI, Y. et al. 2001. Lack of complex I activity in human cells carrying a mutation in MtDNA-encoded ND4 subunit is corrected by the Saccharomyces cerevisiae NADH-quinone oxidoreductase (NDI1) gene. J. Biol. Chem. 276: 38808-38813.
47. VOGEL, R. et al. 2004. Complex I assembly: a puzzling problem. Curr. Opin. Neurol. 17: 179-186.
48. CHOMYN, A. 2001. Mitochondrial genetic control of assembly and function of complex I in mammalian cells. J. Bioenerg. Biomembr. 33: 251-257.
49. SCHAGGER, H. & G. VON JAGOW. 1991. Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form. Anal. Biochem. 199: 223-231.
50. KLEMENT, P. et al. 1995. Analysis of oxidative phosphorylation complexes in cultured human fibroblasts and amniocytes by blue-native-electrophoresis using mitoplasts isolated with the help of digitonin. Anal. Biochem. 231: 218-224.
51. ZERBETTO, E., L. VERGANI & F. DABBENI-SALA. 1997. Quantification of muscle mitochondrial oxidative phosphorylation enzymes via histochemical staining of blue native polyacrylamide gels. Electrophoresis 18: 2059-2064.
52. GUAN, M.X. et al. 1998. The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression. Mol. Cell. Biol. 18: 5868-5879.
53. BAI, Y., R.M. SHAKELEY & G. ATTARDI. 2000. Tight control of respiration by NADH dehydrogenase ND5 subunit gene expression in mouse mitochondria. Mol. Cell. Biol. 20:805-815.
54. TROUNCE, I.A. et al. 1996. Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines. Methods Enzymol. 264: 484-509.
55. KING, M.P. & G. ATTARDI. 1989. Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation. Science 246: 500-503.
56. HOFHAUS, G. & G. ATTARDI. 1993. Lack of assembly of mitochondrial DNA-encoded subunits of respiratory NADH dehydrogenase and loss of enzyme activity in a human cell mutant lacking the mitochondrial ND4 gene product. EMBO J. 12: 3043-3048.
57. DIMAURO, S., M. MANCUSO & A. NAINI. 2004. Mitochondrial encephalomyopathies: therapeutic approach. Ann. N.Y. Acad. Sci. 1011: 232-245.
58. DIMAURO, S., S. TAY & M. MANCUSO. 2004. Mitochondrial encephalomyopathies: diagnostic approach. Ann. N.Y. Acad. Sci. 1011: 217-231.
59. CHOW, C.K. 2004. Dietary coenzyme Q10 and mitochondrial status. Methods Enzymol. 382: 105-112.
60. LANDI, L. et al. 1984. Antioxidative effect of ubiquinones on mitochondrial membranes. Biochem. J. 222: 463-466.
61. MASHIMA, Y., Y. HIIDA & Y. OGUCHI. 1992. Remission of Leber's hereditary optic neuropathy with idebenone. Lancet 340: 368-369.
62. ARTS, W.F. et al. 1983. NADH-CoQ reductase deficient myopathy: successful treatment with riboflavin. Lancet 2: 581-582.
63. YANG, J., L.K. KLAIDMAN & J.D. ADAMS. 2002. Medicinal chemistry of nicotinamide in the treatment of ischemia and reperfusion. Mini Rev. Med. Chem. 2: 125-134.
64. KLAIDMAN, L. et al. 2003. Nicotinamide offers multiple protective mechanisms in stroke as a precursor for NAD+, as a PARP inhibitor and by partial restoration of mitochondrial function. Pharmacology 69: 150-157.
65. GUY, J. et al. 2002. Rescue of a mitochondrial deficiency causing Leber hereditary optic neuropathy. Ann. Neurol. 52: 534-542.
66. DE VRIES, S. & L.A. GRIVELL. 1988. Purification and characterization of a rotenone-insensitive NADH:Q6 oxidoreductase from mitochondria of Saccharomyces cerevisiae. Eur. J. Biochem. 176: 377-384.
67. DE VRIES, S. et al. 1992. Primary structure and import pathway of the rotenone-insensitive NADH-ubiquinone oxidoreductase of mitochondria from Saccharomyces cerevisiae. Eur. J. Biochem. 203: 587-592.
68. PAPA, S. et al. 2004. Respiratory complex I in brain development and genetic disease. Neurochem. Res. 29: 547-560.
69. LENAZ, G. et al. 1998. Oxidative stress, antioxidant defences and aging. Biofactors 8: 195-204.
70. SMEITINK, J., L. VAN DEN HEUVEL & S. DIMAURO. 2001. The genetics and pathology of oxidative phosphorylation. Nat. Rev. Genet. 2: 342-352.