Mitochondrial disease

Lancet

Volumn 368, Issue 9529, 2006, Pages 70-82

  Schapira, Anthony HV ^a  

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

Author keywords

[No Author keywords available]

Indexed keywords

CELL NUCLEUS DNA; DEOXYGUANOSINE KINASE; DNA POLYMERASE; FRATAXIN; MITOCHONDRIAL DNA; MITOCHONDRIAL PROTEIN; THYMIDINE KINASE; UBIQUINONE;

AGING; ALZHEIMER DISEASE; DEGENERATIVE DISEASE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA MODIFICATION; DNA REPLICATION; ENZYME DEFICIENCY; FRIEDREICH ATAXIA; GENE DELETION; GENE MUTATION; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; HETEROPLASMY; HUMAN; HUNTINGTON CHOREA; INFANTILE MITOCHONDRIAL DNA DEPLETION SYNDROME; INHERITANCE; INTRACELLULAR TRANSPORT; LEBER HEREDITARY OPTIC NEUROPATHY; MALE INFERTILITY; MITOCHONDRIAL RESPIRATION; NONHUMAN; OPHTHALMOPLEGIA; PARKINSON DISEASE; PARKINSONISM; PATHOGENESIS; POINT MUTATION; PRIORITY JOURNAL; PROGERIA; REVIEW;

EID: 33745410626     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(06)68970-8     Document Type: Review

References (139)

1. Leonard J., and Schapira A. Mitochondrial respiratory chain disorders I: mitochondrial DNA defects. Lancet 355 (2000) 299-304
2. Leonard J., and Schapira A. Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects. Lancet 355 (2000) 389-394
3. Schapira A. The "new" mitochondrial disorders. J Neurol Neurosurg Psychiatry 72 (2002) 144-149
4. DiMauro S., and Schon E. Mitochondrial respiratory-chain diseases. N Engl J Med 348 (2003) 2656-2668
5. Chinnery P., and Schon E. Mitochondria. J Neurol Neurosurg Psychiatry 74 (2003) 1188-1199
6. Taanman J., Muddle J., and Muntau A. Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts. Hum Mol Genet 12 (2003) 1839-1845
7. Fish J., Raule N., and Attardi G. Discovery of a major D-loop replication origin reveals two modes of human mtDNA synthesis. Science 306 (2004) 2098-2101
8. Torroni A., Petrozzi M., D'Urbano L., et al. Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am J Hum Genet 60 (1997) 1107-1121
9. Wallace D., Brown M., and Lott M. Mitochondrial DNA variation in human evolution and disease. Gene 238 (1999) 211-230
10. Holt I., Dunbar D., and Jacobs H. Behaviour of a population of partially duplicated mitochondrial DNA molecules in cell culture: segregation, maintenance and recombination dependent upon nuclear background. Hum Mol Genet 6 (1997) 1251-1260
11. Tang Y., Manfredi G., Hirano M., and Schon E. Maintenance of human rearranged mitochondrial DNAs in long-term cultured transmitochondrial cell lines. Mol Biol Cell 11 (2000) 2349-2358
12. D'Aurelio M., Gajewski C., Lin M., et al. Heterologous mitochondrial DNA recombination in human cells. Hum Mol Genet 13 (2004) 3171-3179
13. Gu M., Cooper J., Taanman J., and Schapira A. Mitochondrial DNA transmission of the mitochondrial defect in Parkinson's disease. Ann Neurol 44 (1998) 177-186
14. Schwartz M., and Vissing J. Paternal inheritance of mitochondrial DNA. N Engl J Med 347 (2002) 576-580
15. Marchington D., Scott Brown M., Lamb V., et al. No evidence for paternal mtDNA transmission to offspring or extra-embryonic tissues after ICSI. Mol Hum Reprod 8 (2002) 1046-1049
16. Danan C., Sternberg D., Van Steirteghem A., et al. Evaluation of parental mitochondrial inheritance in neonates born after intracytoplasmic sperm injection. Am J Hum Genet 65 (1999) 463-473
17. Houshmand M., Holme E., Hanson C., Wennerholm U., and Hamberger L. Is paternal mitochondrial DNA transferred to the offspring following intracytoplasmic sperm injection?. J Assist Reprod Genet 14 (1997) 223-227
18. Sutovsky P., Moreno R., Ramalho-Santos J., Dominko T., Simerly C., and Schatten G. Ubiquitin tag for sperm mitochondria. Nature 402 (1999) 371-372
19. Sutovsky P., Van Leyen K., McCauley T., Day B., and Sutovsky M. Degradation of paternal mitochondria after fertilization: implications for heteroplasmy, assisted reproductive technologies and mtDNA inheritance. Reprod Biomed Online 8 (2004) 24-33
20. St John J., Sakkas D., Dimitriadi K., et al. Failure of elimination of paternal mitochondrial DNA in abnormal embryos. Lancet 355 (2000) 200
21. Filosto M., Mancuso M., Vives-Bauza C., et al. Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies. Ann Neurol 54 (2003) 524-526
22. Taylor R., McDonnell M., Blakely E., et al. Genotypes from patients indicate no paternal mitochondrial DNA contribution. Ann Neurol 54 (2003) 521-524
23. Chinnery P., Howell N., Lightowlers R., and Turnbull D. MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring. Brain 121 (1998) 1889-1894
24. Tranebjaerg L., Schwartz C., Eriksen H., et al. A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. J Med Genet 32 (1995) 257-263
25. Ezquerra M., Campdelacreu J., Munoz E., Tolosa E., and Marti M. A novel intronic mutation in the DDP1 gene in a family with X-linked dystonia-deafness syndrome. Arch Neurol 62 (2005) 306-308
26. Majamaa K., Moilanen J., Uimonen S., et al. Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. Am J Hum Genet 63 (1998) 447-454
27. Chinnery P., Johnson M., Wardell T., et al. The epidemiology of pathogenic mitochondrial DNA mutations. Ann Neurol 48 (2000) 188-193
28. Darin N., Oldfors A., Moslemi A., Holme E., and Tulinius M. The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA abnormalities. Ann Neurol 49 (2001) 377-383
29. Skladal D., Halliday J., and Thorburn D. Minimum birth prevalence of mitochondrial respiratory chain disorders in children. Brain 126 (2003) 1905-1912
30. Holt I., Harding A., and Morgan-Hughes J. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 331 (1988) 717-719
31. Chinnery P., DiMauro S., Shanske S., et al. Risk of developing a mitochondrial DNA deletion disorder. Lancet 364 (2004) 592-596
32. Servidei S. Mitochondrial encephalomyopathies: gene mutation. Neuromuscul Disord 14 (2004) 107-116
33. Wilson F., Hariri A., Farhi A., et al. A cluster of metabolic defects caused by mutation in a mitochondrial tRNA. Science 306 (2004) 1190-1194
34. McFarland R., Schaefer A., Gardner J., et al. Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation. Ann Neurol 55 (2004) 478-484
35. Cock H., Cooper J., and Schapira A. Nuclear complementation in Leber's hereditary optic neuropathy. Neurology 45 (1995) 294
36. Man P., Griffiths P., Brown D., Howell N., Turnbull D., and Chinnery P. The epidemiology of Leber hereditary optic neuropathy in the North East of England. Am J Hum Genet 72 (2003) 333-339
37. Valentino M., Barboni P., Ghelli A., et al. The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy. Ann Neurol 56 (2004) 631-641
38. Valentino M., Avoni P., Barboni P., et al. Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy. Ann Neurol 51 (2002) 774-778
39. Qi X., Lewin A., Hauswirth W., and Guy J. Suppression of complex I gene expression induces optic neuropathy. Ann Neurol 53 (2003) 198-205
40. Qi X., Lewin A., Hauswirth W., and Guy J. Optic neuropathy induced by reductions in mitochondrial superoxide dismutase. Invest Ophthalmol Vis Sci 44 (2003) 1088-1096
41. Qi X., Lewin A., Sun L., Hauswirth W., and Guy J. SOD2 gene transfer protects against optic neuropathy induced by deficiency of complex I. Ann Neurol 56 (2004) 182-191
42. Beretta S., Mattavelli L., Sala G., et al. Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines. Brain 127 (2004) 2183-2192
43. Kaukonen J., Juselius J., Tiranti V., et al. Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science 289 (2000) 782-785
44. Spelbrink J., Li F., Tiranti V., et al. 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
45. Korhonen J., Gaspari M., and Falkenberg M. TWINKLE Has 5′ -> 3′ DNA helicase activity and is specifically stimulated by mitochondrial single-stranded DNA-binding protein. J Biol Chem 278 (2003) 48627-48632
46. Tyynismaa H., Sembongi H., Bokori-Brown M., et al. Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number. Hum Mol Genet 13 (2004) 3219-3227
47. Kiechl S., Horvath R., Luoma P., et al. Two families with autosomal dominant progressive external ophthalmoplegia. J Neurol Neurosurg Psychiatry 75 (2004) 1125-1128
48. Hudson G., Deschauer M., Busse K., Zierz S., and Chinnery P. Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism. Neurology 64 (2005) 371-373
49. Filosto M., Mancuso M., Nishigaki Y., et al. Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. Arch Neurol 60 (2003) 1279-1284
50. Rovio A., Marchington D., Donat S., et al. Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility. Nat Genet 29 (2001) 261-262
51. Jensen M., Leffers H., Petersen J., et al. Frequent polymorphism of the mitochondrial DNA polymerase gamma gene (POLG) in patients with normal spermiograms and unexplained subfertility. Hum Reprod 19 (2004) 65-70
52. Krausz C., Guarducci E., Becherini L., et al. The clinical significance of the POLG gene polymorphism in male infertility. J Clin Endocrinol Metab 89 (2004) 4292-4297
53. Naviaux R., and Nguyen K. POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Ann Neurol 55 (2004) 706-712
54. Ferrari G., Lamantea E., Donati A., et al. Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. Brain 128 (2005) 723-731
55. Bohnert B., and Noetzel H. Familial spongiform glioneuronal dystrophy. Arch Psychiatr Nervenkr 218 (1974) 353-368
56. Harding B., Alsanjari N., Smith S., et al. Progressive neuronal degeneration of childhood with liver disease (Alpers' disease) presenting in young adults. J Neurol Neurosurg Psychiatry 58 (1995) 320-325
57. Van Goethem G., Dermaut B., Lofgren A., Martin J., and Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 28 (2001) 211-212
58. Van Goethem G., Martin J., and Van Broeckhoven C. Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions. Acta Neurol Belg 102 (2002) 39-42
59. Mancuso M., Filosto M., Bellan M., et al. POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. Neurology 62 (2004) 316-318
60. Luoma P., Melberg A., Rinne J., et al. Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. Lancet 364 (2004) 875-882
61. Mancuso M., Filosto M., Oh S., and DiMauro S. A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism. Arch Neurol 61 (2004) 1777-1779
62. Mandel H., Szargel R., Labay V., et al. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet 29 (2001) 337-341
63. Saada A., Shaag A., Mandel H., Nevo Y., Eriksson S., and Elpeleg O. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Genet 29 (2001) 342-344
64. Barrientos A., Barros M., Valnot I., Rotig A., Rustin P., and Tzagoloff A. Cytochrome oxidase in health and disease. Gene 286 (2002) 53-63
65. Papadopoulou L., Sue C., Davidson M., et al. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Nat Genet 23 (1999) 333-337
66. 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
67. Tiranti V., Hoertnagel K., Carrozzo R., et al. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet 63 (1998) 1609-1621
68. Valnot I., Kleist-Retzow J., Barrientos A., et al. A mutation in the human heme A: farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency. Hum Mol Genet 9 (2000) 1245-1249
69. Antonicka H., Mattman A., Carlson C., 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
70. Mootha V., Lepage P., Miller K., et al. Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. Proc Natl Acad Sci USA 100 (2003) 605-610
71. Coenen M., van den Heuvel L., Ugalde C., et al. Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene. Ann Neurol 56 (2004) 560-564
72. Tay S., Nesti C., Mancuso M., et al. Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency. Arch Neurol 61 (2004) 1935-1937
73. de Lonlay P., Valnot I., Barrientos A., et al. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nat Genet 29 (2001) 57-60
74. Visapaa I., Fellman V., Vesa J., et al. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am J Hum Genet 71 (2002) 863-876
75. De Meirleir L., Seneca S., Lissens W., et al. Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12. J Med Genet 41 (2004) 120-124
76. Ogasahara S., Engel A., Frens D., and Mack D. Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy. Proc Natl Acad Sci USA 86 (1989) 2379-2382
77. 10 deficiency. Neurology 56 (2001) 849-855
78. 10 deficiency. Neurology 60 (2003) 1206-1208
79. 10 deficiency. Arch Neurol 62 (2005) 317-320
80. Schapira A., Cooper J., Dexter D., Jenner P., Clark J., and Marsden C. Mitochondrial complex I deficiency in Parkinson's disease. Lancet 1 (1989) 1269
81. Parker Jr. W., Boyson S., and Parks J. Abnormalities of the electron transport chain in idiopathic Parkinson's disease. Ann Neurol 26 (1989) 719-723
82. Wallace D., Shoffner J., Watts R., Juncos J., and Torroni A. Mitochondrial oxidative phosphorylation defects in Parkinson's disease. Ann Neurol 32 (1992) 113-114
83. Krige D., Carroll M., Cooper J., Marsden C., and Schapira A. Platelet mitochondrial function in Parkinson's disease. The Royal Kings and Queens Parkinson Disease Research Group. Ann Neurol 32 (1992) 782-788
84. Hoglinger G., Carrard G., Michel P., et al. Dysfunction of mitochondrial complex I and the proteasome: interactions between two biochemical deficits in a cellular model of Parkinson's disease. J Neurochem 86 (2003) 1297-1307
85. Hsu L., Sagara Y., Arroyo A., et al. Alpha-synuclein promotes mitochondrial deficit and oxidative stress. Am J Pathol 157 (2000) 401-410
86. Lee S. Alpha-synuclein aggregation: a link between mitochondrial defects and Parkinson's disease?. Antioxid Redox Signal 5 (2003) 337-348
87. Palacino J., Sagi D., Goldberg M., et al. Mitochondrial dysfunction and oxidative damage in parkin-deficient mice. J Biol Chem 279 (2004) 18614-18622
88. Greene J., Whitworth A., Kuo I., Andrews L., Feany M., and Pallanck L. Mitochondrial pathology and apoptotic muscle degeneration in Drosophila parkin mutants. Proc Natl Acad Sci USA 100 (2003) 4078-4083
89. Muftuoglu M., Elibol B., Dalmizrak O., et al. Mitochondrial complex I and IV activities in leukocytes from patients with parkin mutations. Mov Disord 19 (2004) 544-548
90. Darios F., Corti O., Lucking C., et al. Parkin prevents mitochondrial swelling and cytochrome c release in mitochondria-dependent cell death. Hum Mol Genet 12 (2003) 517-526
91. Canet-Aviles R., Wilson M., Miller D., et al. The Parkinson's disease protein DJ-1 is neuroprotective due to cysteine-sulfinic acid-driven mitochondrial localization. Proc Natl Acad Sci USA 101 (2004) 9103-9108
92. Valente E., Abou-Sleiman P., Caputo V., et al. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 304 (2004) 1158-1160
93. Beilina A., Van Der B., Ahmad R., et al. Mutations in PTEN-induced putative kinase 1 associated with recessive parkinsonism have differential effects on protein stability. Proc Natl Acad Sci USA 102 (2005) 5703-5708
94. Taanman J., and Schapira A. Analysis of the trinucleotide CAG repeat from the DNA polymerase gamma gene (POLG) in patients with Parkinson's disease. Neurosci Lett 376 (2005) 56-59
95. Thyagarajan D., Bressman S., Bruno C., et al. A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy. Ann Neurol 48 (2000) 730-736
96. Tan E., Khajavi M., Thornby J., Nagamitsu S., Jankovic J., and Ashizawa T. Variability and validity of polymorphism association studies in Parkinson's disease. Neurology 55 (2000) 533-538
97. van der Walt J., Nicodemus K., Martin E., et al. Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. Am J Hum Genet 72 (2003) 804-811
98. Pyle A., Foltynie T., Tiangyou W., et al. Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD. Ann Neurol 57 (2005) 564-567
99. Ross O., McCormack R., Maxwell L., et al. mt4216C variant in linkage with the mtDNA TJ cluster may confer a susceptibility to mitochondrial dysfunction resulting in an increased risk of Parkinson's disease in the Irish. Exp Gerontol 38 (2003) 397-405
100. 10 in early Parkinson disease: evidence of slowing of the functional decline. Arch Neurol 59 (2002) 1541-1550
101. Casley C., Canevari L., Land J., Clark J., and Sharpe M. Beta-amyloid inhibits integrated mitochondrial respiration and key enzyme activities. J Neurochem 80 (2002) 91-100
102. Busciglio J., Pelsman A., Wong C., et al. Altered metabolism of the amyloid beta precursor protein is associated with mitochondrial dysfunction in Down's syndrome. Neuron 33 (2002) 677-688
103. Kish S., Bergeron C., Rajput A., et al. Brain cytochrome oxidase in Alzheimer's disease. J Neurochem 59 (1992) 776-779
104. Parker Jr. W., Parks J., Filley C., and Kleinschmidt-DeMasters B. Electron transport chain defects in Alzheimer's disease brain. Neurology 44 (1994) 1090-1096
105. Parker Jr. W., and Parks J. Cytochrome c oxidase in Alzheimer's disease brain: purification and characterization. Neurology 45 (1995) 482-486
106. Chandrasekaran K., Hatanpaa K., Rapoport S., and Brady D. Decreased expression of nuclear and mitochondrial DNA-encoded genes of oxidative phosphorylation in association neocortex in Alzheimer disease. Brain Res Mol Brain Res 44 (1997) 99-104
107. Ojaimi J., Masters C., McLean C., Opeskin K., McKelvie P., and Byrne E. Irregular distribution of cytochrome c oxidase protein subunits in aging and Alzheimer's disease. Ann Neurol 46 (1999) 656-660
108. Cooper J., Wischik C., and Schapira A. Mitochondrial function in Alzheimer's disease. Lancet 341 (1993) 969-970
109. Reichmann H., Florke S., Hebenstreit G., Schrubar H., and Riederer P. Analyses of energy metabolism and mitochondrial genome in post-mortem brain from patients with Alzheimer's disease. J Neurol 240 (1993) 377-380
110. Parker Jr. W., Filley C., and Parks J. Cytochrome oxidase deficiency in Alzheimer's disease. Neurology 40 (1990) 1302-1303
111. Davis R., Miller S., Herrnstadt C., et al. Mutations in mitochondrial cytochrome c oxidase genes segregate with late-onset Alzheimer disease. Proc Natl Acad Sci USA 94 (1997) 4526-4531
112. Corral-Debrinski M., Horton T., Lott M., et al. Marked changes in mitochondrial DNA deletion levels in Alzheimer brains. Genomics 23 (1994) 471-476
113. Coskun P., Beal M., and Wallace D. Alzheimer's brains harbor somatic mtDNA control-region mutations that suppress mitochondrial transcription and replication. Proc Natl Acad Sci USA 101 (2004) 10726-10731
114. Lustbader J., Cirilli M., Lin C., et al. ABAD directly links Abeta to mitochondrial toxicity in Alzheimer's disease. Science 304 (2004) 448-452
115. Torroja L., Ortuno-Sahagun D., Ferrus A., Hammerle B., and Barbas J. Scully, an essential gene of Drosophila, is homologous to mammalian mitochondrial type II L-3-hydroxyacyl-CoA dehydrogenase/amyloid-beta peptide-binding protein. J Cell Biol 141 (1998) 1009-1017
116. Yan S., Fu J., Soto C., et al. An intracellular protein that binds amyloid-beta peptide and mediates neurotoxicity in Alzheimer's disease. Nature 389 (1997) 689-695
117. Yan S., Shi Y., Zhu A., et al. Role of ERAB/L-3-hydroxyacyl-coenzyme A dehydrogenase type II activity in Abeta-induced cytotoxicity. J Biol Chem 274 (1999) 2145-2156
118. Schon E., and Manfredi G. Neuronal degeneration and mitochondrial dysfunction. J Clin Invest 111 (2003) 303-312
119. Okado-Matsumoto A., and Fridovich I. Amyotrophic lateral sclerosis: a proposed mechanism. Proc Natl Acad Sci USA 99 (2002) 9010-9014
120. Seznec H., Simon D., Bouton C., et al. Friedreich ataxia: the oxidative stress paradox. Hum Mol Genet 14 (2005) 463-474
121. Seznec H., Simon D., Monassier L., et al. Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia. Hum Mol Genet 13 (2004) 1017-1024
122. Hausse A., Aggoun Y., Bonnet D., et al. Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia. Heart 87 (2002) 346-349
123. Lodi R., Hart P., Rajagopalan B., et al. Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia. Ann Neurol 49 (2001) 590-596
124. Hart P., Lodi R., Rajagopalan B., et al. Antioxidant treatment of patients with Friedreich ataxia: four-year follow-up. Arch Neurol 62 (2005) 621-626
125. Trifunovic A., Wredenberg A., Falkenberg M., et al. Premature ageing in mice expressing defective mitochondrial DNA polymerase. Nature 429 (2004) 417-423
126. Schriner S., Linford N., Martin G., et al. Extension of murine life span by overexpression of catalase targeted to mitochondria. Science 308 (2005) 1909-1911
127. Polyak K., Li Y., Zhu H., Lengauer C., et al. Somatic mutations of the mitochondrial genome in human colorectal tumours. Nat Genet 20 (1998) 291-293
128. Chinnery P., Samuels D., Elson J., and Turnbull D. Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: is there a common mechanism?. Lancet 360 (2002) 1323-1325
129. Petros J., Baumann A., Ruiz-Pesini E., et al. mtDNA mutations increase tumorigenicity in prostate cancer. Proc Natl Acad Sci USA 102 (2005) 719-724
130. Petersen K., Dufour S., Befroy D., Garcia R., and Shulman G. Impaired mitochondrial activity in the insulin-resistant offspring of patients with type 2 diabetes. N Engl J Med 350 (2004) 664-671
131. Mootha V., Lindgren C., Eriksson K., et al. PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes. Nat Genet 34 (2003) 67-73
132. Mootha V., Handschin C., Arlow D., et al. Erralpha and Gabpa/b specify PGC-1alpha-dependent oxidative phosphorylation gene expression that is altered in diabetic muscle. Proc Natl Acad Sci USA 101 (2005) 6570-6575 Erratum in: Proc Natl Acad Sci USA 2005; 102: 10405
133. Mattiazzi M., Vijayvergiya C., Gajewski C., et al. The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants. Hum Mol Genet 13 (2004) 869-879
134. Smith P., Ross G., Taylor R., Turnbull D., and Lightowlers R. Strategies for treating disorders of the mitochondrial genome. Biochim Biophys Acta 1659 (2004) 232-239
135. Clark K., Bindoff L., Lightowlers R., et al. Reversal of a mitochondrial DNA defect in human skeletal muscle. Nat Genet 16 (1997) 222-224
136. Tanaka M., Borgeld H., Zhang J., et al. Gene therapy for mitochondrial disease by delivering restriction endonuclease SmaI into mitochondria. J Biomed Sci 9 (2002) 534-541
137. Entelis N., Kolesnikova O., Dogan S., Martin R., and Tarassov I. 5 S rRNA and tRNA import into human mitochondria: comparison of in vitro requirements. J Biol Chem 276 (2001) 45642-45653
138. Kolesnikova O., Entelis N., Jacquin-Becker C., et al. Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF syndrome in cultured human cells. Hum Mol Genet 13 (2004) 2519-2534
139. Harding A., Sweeney M., Govan G., and Riordan-Eva P. Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation. Am J Hum Genet 57 (1995) 77-86