The mitochondrial genome in human adaptive radiation and disease: On the road to therapeutics and performance enhancement

Gene

Volumn 354, Issue 1-2 SPEC. ISS., 2005, Pages 169-180

  Wallace, Douglas C ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Aging; Degenerative diseases; Metabolic and genetic therapies; Mitochondrion mtDNA; OXPHOS

Indexed keywords

ADENINE NUCLEOTIDE TRANSLOCASE; ADENOSINE TRIPHOSPHATE; ADENOSINE TRIPHOSPHATE 1; ADENOSINE TRIPHOSPHATE 8; ADENOVIRUS VECTOR; ALDEHYDE DEHYDROGENASE; ALPHA TOCOPHEROL; ASCORBIC ACID; DICHLOROACETIC ACID; EUK 189; IDEBENONE; MANGANESE 5,10,15,20 TETRAKIS(4 BENZOIC ACID)PORPHYRIN; MANGANESE DERIVATIVE; MANGANESE N,N' ETHYLENEBIS(3 METHOXYSALICYLIDENEAMINE); MANGANESE SALEN CHLORIDE; MANGANESE SUPEROXIDE DISMUTASE; MENADIONE; MITOCHONDRIAL DNA; OLIGONUCLEOTIDE; POLYPEPTIDE; PROTEIN; PROTEIN ND 4; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE (PHOSPHATE) DEHYDROGENASE (QUINONE); SUCCINIC ACID; SUPEROXIDE DISMUTASE; TRIACETYLURIDINE; UBIDECARENONE; UNCLASSIFIED DRUG; URIDINE;

AGING; APOPTOSIS; BODY TEMPERATURE; CANCER; CARDIOMYOPATHY; CELL DIVISION; COMPLEX I DEFICIENCY; COMPLEX III DEFICIENCY; CONFERENCE PAPER; DEGENERATIVE DISEASE; DIABETES MELLITUS; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA REPLICATION; GENE MUTATION; GENE REARRANGEMENT; GENE THERAPY; GENETIC CODE; GENETIC VARIABILITY; GERM LINE GENE THERAPY; HUMAN; MITOCHONDRIAL ENERGY TRANSFER; MITOCHONDRION; NONHUMAN; OXIDATIVE PHOSPHORYLATION; OXIDATIVE STRESS; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN FUNCTION; SOMATIC GENE THERAPY;

AGING; DNA, MITOCHONDRIAL; GENE THERAPY; HUMANS; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MUTATION; NEOPLASMS; NEURODEGENERATIVE DISEASES; OXIDATIVE PHOSPHORYLATION; REACTIVE OXYGEN SPECIES;

EID: 23644433329     PISSN: 03781119     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.gene.2005.05.001     Document Type: Conference Paper

References (62)

1. Z. Argov Treatment of mitochondrial myopathy due to complex III deficiency with vitamins K3 and C: A 31P-NMR follow-up study Ann. Neurol. 19 1986 598 602
2. Y. Bai 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 2001 38808 38813
3. S.W. Ballinger Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion Nat. Genet. 1 1992 11 15
4. S.W. Ballinger, J.M. Shoffner, S. Gebhart, D.A. Koontz, and D.C. Wallace Mitochondrial diabetes revisited Nat. Genet. 7 1994 458 459
5. M. Bowmaker Mammalian mitochondrial DNA replicates bidirectionally from an initiation zone J. Biol. Chem. 278 2003 50961 50969
6. D.A. Clayton Replication of animal mitochondrial DNA Cell 28 1982 693 705
7. P.E. Coskun, E.E. Ruiz-Pesini, and D.C. Wallace Control region mtDNA variants: longevity, climatic adaptation and a forensic conundrum Proc. Natl. Acad. Sci. U. S. A. 100 2003 2174 2176
8. P.E. Coskun, M.F. Beal, and D.C. Wallace Alzheimer's brains harbor somatic mtDNA control-region mutations that suppress mitochondrial transcription and replication Proc. Natl. Acad. Sci. U. S. A. 101 2004 10726 10731
9. C. Delettre Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy Nat. Genet. 26 2000 207 210
10. S. DiMauro Mitochondrial medicine Biochim. Biophys. Acta 1659 2004 107 114
11. 3 and C in a patient with a defect in electron transport at complex III in skeletal muscle Proc. Natl. Acad. Sci. U. S. A. 81 1984 3529 3533
12. A. Filipovska, M.R. Eccles, R.A. Smith, and M.P. Murphy Delivery of antisense peptide nucleic acids (PNAs) to the cytosol by disulphide conjugation to a lipophilic cation FEBS Lett. 556 2004 180 186
13. A. Flierl, C. Jackson, B. Cottrell, D. Murdock, P. Seibel, and D.C. Wallace Targeted delivery of DNA to the mitochondrial compartment via import sequence-conjugated peptide nucleic acid Mol. Ther. 7 2003 550 557
14. A. Flierl, Y. Chen, P.E. Coskun, R.J. Samulski, and D.C. Wallace Adeno-associated virus-mediated gene transfer of the heart/muscle adenine nucleotide translocator (ANT) in mouse Gene Ther. 12 2005 570 578
15. V. Geromel Mitochondria transfection by oligonucleotides containing a signal peptide and vectorized by cationic liposomes Antisense Nucleic Acid Drug Dev. 11 2001 175 180
16. V. Geromel Coenzyme Q(10) and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits Mol. Genet. Metab. 77 2002 21 30
17. J. Guy Rescue of a mitochondrial deficiency causing Leber hereditary optic neuropathy Ann. Neurol. 52 2002 534 542
18. I.J. Holt, and H.T. Jacobs Response: the mitochondrial DNA replication bubble has not burst Trends Biochem. Sci. 28 2003 355 356
19. I.J. Holt, A.E. Harding, R.K. Petty, and J.A. Morgan-Hughes A new mitochondrial disease associated with mitochondrial DNA heteroplasmy Am. J. Hum. Genet. 46 1990 428 433
20. A.M. James, R.A. Smith, and M.P. Murphy Antioxidant and prooxidant properties of mitochondrial Coenzyme Q Arch. Biochem. Biophys. 423 2004 47 56
21. M.L. Jauslin, T. Meier, R.A. Smith, and M.P. Murphy Mitochondria-targeted antioxidants protect Friedreich Ataxia fibroblasts from endogenous oxidative stress more effectively than untargeted antioxidants FASEB J. 17 2003 1972 1974
22. J. Kaukonen A. Role of adenine nucleotide translocator 1 in mtDNA maintenance Science 289 2000 782 785
23. M.P. King, and G. Attardi Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation Science 246 1989 500 503
24. H. Mandel The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA Nat. Genet. 29 2001 337 341
25. G. Manfredi Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus Nat. Genet. 30 2002 394 399
26. S. Melov A novel neurological phenotype in mice lacking mitochondrial manganese superoxide dismutase Nat. Genet. 18 1998 159 163
27. S. Melov Extension of life-span with superoxide dismutase/catalase mimetics Science 289 2000 1567 1569
28. S. Melov Lifespan extension and rescue of spongiform encephalopathy in superoxide dismutase 2 nullizygous mice treated with superoxide dismutase-catalase mimetics J. Neurosci. 21 2001 8348 8353
29. Y. Michikawa, F. Mazzucchelli, N. Bresolin, G. Scarlato, and G. Attardi Aging-dependent large accumulation of point mutations in the human mtDNA control region for replication Science 286 1999 774 779
30. D. Mishmar Natural selection shaped regional mtDNA variation in humans Proc. Natl. Acad. Sci. U. S. A. 100 2003 171 176
31. R. Naviaux Options and challenges in the treatment of mitochondrial disease Genet. Med. 2 2000 56
32. I. Nishino, A. Spinazzola, and M. Hirano Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder Science 283 1999 689 692
33. J.A. Petros mtDNA mutations increase tumorigenicity in prostate cancer Proc. Natl. Acad. Sci. U. S. A. 102 2005 719 724
34. V. Procaccio, and D.C. Wallace Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations Neurology 62 2004 1899 1901
35. X. Qi, A.S. Lewin, W.W. Hauswirth, and J. Guy Optic neuropathy induced by reductions in mitochondrial superoxide dismutase Invest. Ophthalmol. Vis. Sci. 44 2003 1088 1096
36. X. Qi, A.S. Lewin, W.W. Hauswirth, and J. Guy Suppression of complex I gene expression induces optic neuropathy Ann. Neurol. 53 2003 198 205
37. X. Qi, A.S. Lewin, L. Sun, W.W. Hauswirth, and J. Guy SOD2 gene transfer protects against optic neuropathy induced by deficiency of complex I Ann. Neurol. 56 2004 182 191
38. E. Ruiz-Pesini, D. Mishmar, M. Brandon, V. Procaccio, and D.C. Wallace Effects of purifying and adaptive selection on regional variation in human mtDNA Science 303 2004 223 226
39. A. Saada, A. Shaag, H. Mandel, Y. Nevo, S. Eriksson, and O. Elpeleg Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy Nat. Genet. 29 2001 342 344
40. B.B. Seo, T. Kitajima-Ihara, E.K. Chan, I.E. Scheffler, A. Matsuno-Yagi, and T. Yagi Molecular remedy of complex I defects: rotenone-insensitive internal NADH-quinone oxidoreductase of Saccharomyces cerevisiae mitochondria restores the NADH oxidase activity of complex I-deficient mammalian cells Proc. Natl. Acad. Sci. U. S. A. 95 1998 9167 9171
41. B.B. Seo, J. Wang, T.R. Flotte, T. Yagi, and A. Matsuno-Yagi Use of the NADH-quinone oxidoreductase (NDI1) gene of Saccharomyces cerevisiae as a possible cure for complex I defects in human cells J. Biol. Chem. 275 2000 37774 37778
42. B.B. Seo, E. Nakamaru-Ogiso, T.R. Flotte, T. Yagi, and A. Matsuno-Yagi A single-subunit NADH-quinone oxidoreductase renders resistance to mammalian nerve cells against complex I inhibition Mol. Ther. 6 2002 336 341
43. B.B. Seo, E. Nakamaru-Ogiso, P. Cruz, T.R. Flotte, T. Yagi, and A. Matsuno-Yagi Functional expression of the single subunit NADH dehydrogenase in mitochondria in vivo: a potential therapy for complex I deficiencies Hum. Gene Ther. 15 2004 887 895
44. J.M. Shoffner, and D.C. Wallace Oxidative phosphorylation diseases and mitochondrial DNA mutations: diagnosis and treatment Annu. Rev. Nutr. 14 1994 535 568
45. J.M. Shoffner, M.T. Lott, A.S. Voljavec, S.A. Soueidan, D.A. Costigan, and D.C. Wallace Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy Proc. Natl. Acad. Sci. U. S. A. 86 1989 7952 7956
46. J. Smeitink, and L. van den Heuvel Protein Biosynthesis ′99. Human mitochondrial complex I in health and disease Am. J. Hum. Genet. 64 1999 1505 1510
47. R.A. Smith, C.M. Porteous, A.M. Gane, and M.P. Murphy Delivery of bioactive molecules to mitochondria in vivo Proc. Natl. Acad. Sci. U. S. A. 100 2003 5407 5412
48. J.N. Spelbrink Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria Nat. Genet. 28 2001 223 231
49. R.W. Taylor, P.F. Chinnery, K.M. Clark, R.N. Lightowlers, and D.M. Turnbull Treatment of mitochondrial disease J. Bioenerg. Biomembranes 29 1997 195 205
50. R.W. Taylor, P.F. Chinnery, D.M. Turnbull, and R.N. Lightowlers Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids Nat. Genet. 15 1997 212 215
51. V. Tiranti Mutations of SURF-1 in Leigh Disease associated with cytochrome c oxidase deficiency Am. J. Hum. Genet. 63 1998 1609 1621
52. I. Trounce, and D.C. Wallace Production of transmitochondrial mouse cell lines by cybrid rescue of rhodamine-6G pre-treated L-cells Somat. Cell Mol. Genet. 22 1996 81 85
53. I. Trounce, S. Neill, and D.C. Wallace Cytoplasmic transfer of the mtDNA nt 8993 T→G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP / O ratio Proc. Natl. Acad. Sci. U. S. A. 91 1994 8334 8338
54. G. Van Goethem, B. Dermaut, A. Lofgren, J.J. Martin, and C. Van Broeckhoven Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions Nat. Genet. 28 2001 211 212
55. G. Van Goethem, J.J. Martin, and C. Van Broeckhoven Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification Neuromolecular Med. 3 2003 129 146
56. D.C. Wallace Maternal genes: mitochondrial diseases V.A. McKusick T.H. Roderick J. Mori M.W. Paul Medical and Experimental Mammalian Genetics: a Perspective vol. 23 1987 A.R. Liss, Inc., for the March of Dimes Foundation New York 137 190
57. D.C. Wallace, and M.T. Lott Mitochondrial genes in degenerative diseases, cancer and aging D.L. Rimoin J.M. Connor R.E. Pyeritz B.R. Korf Emery and Rimoin's Principles and Practice of Medical Genetics 2002 Churchill Livingstone London 299 409
58. D.C. Wallace Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy Science 242 1988 1427 1430
59. D.C. Wallace, M.D. Brown, and M.T. Lott Mitochondrial DNA variation in human evolution and disease Gene 238 1999 211 230
60. D.C. Wallace, M.T. Lott, M.D. Brown, and K. Kerstann Mitochondria and neuro-ophthalmological diseases C.R. Scriver A.L. Beaudet W.S. Sly D. Valle The Metabolic and Molecular Basis of Inherited Disease vol. II 2001 McGraw-Hill New York 2425 2512
61. Z. Zhu SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome Nat. Genet. 20 1998 337 343
62. S. Zuchner Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A Nat. Genet. 36 2004 449 451