Mitochondrial diseases

The Lancet

Volumn 379, Issue 9828, 2012, Pages 1825-1834

  Schapira, Anthony H V ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BEZAFIBRATE; MITOCHONDRIAL DNA; RESVERATROL; UBIDECARENONE;

ALZHEIMER DISEASE; CONFERENCE PAPER; DEGENERATIVE DISEASE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; HUMAN; HUNTINGTON CHOREA; MITOCHONDRIAL MYOPATHY; NONHUMAN; PARKINSON DISEASE; PATHOGENESIS; PRIORITY JOURNAL; RESPIRATORY CHAIN; TRANSCRIPTION REGULATION;

EID: 84860840558     PISSN: 01406736     EISSN: 1474547X     Source Type: Journal    
DOI: 10.1016/S0140-6736(11)61305-6     Document Type: Conference Paper

References (140)

1. Schapira AHV. Mitochondrial disease. Lancet 2006; 368: 70-82.
2. Duchen MR, Szabadkai G. Roles of mitochondria in human disease. Essays Biochem 2010; 47: 115-37.
3. McFarland R, Taylor RW, Turnbull DM. A neurological perspective on mitochondrial disease. Lancet Neurol 2010; 9: 829-40.
4. Plun-Favreau H, Lewis PA, Hardy J, Martins LM, Wood NW. Cancer and neurodegeneration: between the devil and the deep blue sea. PLoS Genet 2010; 6: e1001257.
5. de Castro I, Martins LM, TufiR. Mitochondrial quality control and neurological disease: an emerging connection. Expert Rev Mol Med 2010; 12: e12.
6. Dagda RK, Chu CT. Mitochondrial quality control: insights on how Parkinson's disease related genes PINK1, parkin, and Omi/HtrA2 interact to maintain mitochondrial homeostasis. J Bioenerg Biomembr 2009; 41: 473-79.
7. Malena A, Loro E, Di RM, Holt IJ, Vergani L. Inhibition of mitochondrial fission favours mutant over wild-type mitochondrial DNA. Hum Mol Genet 2009; 18: 3407-16.
8. Poole AC, Thomas RE, Andrews LA, McBride HM, Whitworth AJ, Pallanck LJ. The PINK1/Parkin pathway regulates mitochondrial morphology. Proc Natl Acad Sci USA 2008; 105: 1638-43. (Pubitemid 351346567)
9. Narendra D, Tanaka A, Suen DF, Youle RJ. Parkin is recruited selectively to impaired mitochondria and promotes their autophagy. J Cell Biol 2008; 183: 795-803.
10. Kim Y, Park J, Kim S, et al. PINK1 controls mitochondrial localization of Parkin through direct phosphorylation. Biochem Biophys Res Commun 2008; 377: 975-80.
11. Gegg ME, Cooper JM, Chau KY, Rojo M, Schapira AH, Taanman JW. Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy. Hum Mol Genet 2010; 19: 4861-70.
12. Schapira AH. Etiology of Parkinson's disease. Neurology 2006; 66 (10 suppl 4): S10-S23.
13. Gegg ME, Schapira AH. PINK1-parkin-dependent mitophagy involves ubiquitination of mitofusins 1 and 2: Implications for Parkinson disease pathogenesis. Autophagy 2011; 7: 243-45.
14. Larsson NG. Somatic mitochondrial DNA mutations in mammalian aging. Annu Rev Biochem 2010; 79: 683-706.
15. Wallace DC. Mitochondrial DNA mutations in disease and aging.Environ Mol Mutagen 2010; 51: 440-50.
16. Kraytsberg Y, Kudryavtseva E, McKee AC, Geula C, Kowall NW, Khrapko K. Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons. Nat Genet 2006; 38: 518-20.
17. Trifunovic A, Wredenberg A, Falkenberg M, et al. Premature ageing in mice expressing defective mitochondrial DNA polymerase. Nature 2004; 429: 417-23. (Pubitemid 38715133)
18. Schriner SE, Linford NJ, Martin GM, et al. Extension of murine life span by overexpression of catalase targeted to mitochondria. Science 2005; 308: 1909-11. (Pubitemid 40941874)
19. Luce K, Weil AC, Osiewacz HD. Mitochondrial protein quality control systems in aging and disease. Adv Exp Med Biol 2010; 694: 108-25.
20. Bandyopadhyay U, Cuervo AM. Chaperone-mediated autophagy in aging and neurodegeneration: lessons from alpha-synuclein. Exp Gerontol 2007; 42: 120-28. (Pubitemid 44937825)
21. Bitner-Glindzicz M, Pembrey M, Duncan A, et al. Prevalence of mitochondrial 1555A→G mutation in European children. N Engl J Med 2009; 360: 640-42.
22. Vandebona H, Mitchell P, Manwaring N, et al. Prevalence of mitochondrial 1555A→G mutation in adults of European descent. N Engl J Med 2009; 360: 642-44.
23. Cai W, Fu Q, Zhou X, Qu J, Tong Y, Guan MX. Mitochondrial variants may influence the phenotypic manifestation of Leber's hereditary optic neuropathy-associated ND4 G11778A mutation. J Genet Genomics 2008; 35: 649-55.
24. Cock HR, Tabrizi SJ, Cooper JM, Schapira AH. The influence of nuclear background on the biochemical expression of 3460 Leber's hereditary optic neuropathy. Ann Neurol 1998; 44: 187-93. (Pubitemid 28374106)
25. Copeland WC. Inherited mitochondrial diseases of DNA replication. Annu Rev Med 2008; 59: 131-46. (Pubitemid 351287928)
26. Taanman JW, Rahman S, Pagnamenta AT, et al. Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion. Hum Mutat 2009; 30: 248-54.
27. Rahman S, Poulton J. Diagnosis of mitochondrial DNA depletion syndromes. Arch Dis Child 2009; 94: 3-5.
28. Williams SL, Huang J, Edwards YJ, et al. The mtDNA mutation spectrum of the progeroid Polg mutator mouse includes abundant control region multimers. Cell Metab 2010; 12: 675-82.
29. Ekstrand MI, Terzioglu M, Galter D, et al. Progressive parkinsonism in mice with respiratory-chain-deficient dopamine neurons. Proc Natl Acad Sci USA 2007; 104: 1325-30. (Pubitemid 46184003)
30. DiFrancesco JC, Cooper JM, Lam A, et al. MELAS mitochondrial DNA mutation A3243G reduces glutamate transport in cybrids cell lines. Exp Neurol 2008; 212: 152-56.
31. Wang C, Youle RJ. The role of mitochondria in apoptosis. Annu Rev Genet 2009; 43: 95-118.
32. Ghezzi D, Sevrioukova I, Invernizzi F, et al. Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. Am J Hum Genet 2010; 86: 639-49.
33. Finsterer J, Harbo HF, Baets J, et al. EFNS guidelines on the molecular diagnosis of mitochondrial disorders. Eur J Neurol 2009; 16: 1255-64.
34. Morgan-Hughes JA, Sweeney MG, Cooper JM, et al. Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype. Biochim Biophys Acta 1995; 1271: 135-40.
35. Chinnery P, Majamaa K, Turnbull D, Thorburn D. Treatment for mitochondrial disorders. Cochrane Database Syst Rev 2006; 1: CD004426.
36. Montini G, Malaventura C, Salviati L. Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency. N Engl J Med 2008; 358: 2849-50. (Pubitemid 351930884)
37. Moutaouakil F, El Otmani H, Fadel H, Sefrioui F, Slassi I. l-arginine efficiency in MELAS syndrome. A case report. Rev Neurol (Paris) 2009; 165: 482-85 (in French).
38. Taanman JW, Daras M, Albrecht J, et al. Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Neuromuscul Disord 2009; 19: 151-54.
39. Halter J, Schupbach WM, Casali C, et al. Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach. Bone Marrow Transplant 2011; 46: 330-37.
40. Murphy JL, Blakely EL, Schaefer AM, et al. Resistance training in patients with single, large-scale deletions of mitochondrial DNA. Brain 2008; 131: 2832-40.
41. Jeppesen TD, Duno M, Schwartz M, et al. Short- and long-term effects of endurance training in patients with mitochondrial myopathy. Eur J Neurol 2009; 16: 1336-39.
42. Taivassalo T, Shoubridge EA, Chen J, et al. Aerobic conditioning in patients with mitochondrial myopathies: physiological, biochemical, and genetic effects. Ann Neurol 2001; 50: 133-41. (Pubitemid 32738136)
43. Kyriakouli DS, Boesch P, Taylor RW, Lightowlers RN. Progress and prospects: gene therapy for mitochondrial DNA disease. Gene Ther 2008; 15: 1017-23. (Pubitemid 351927692)
44. Tachibana M, Sparman M, Sritanaudomchai H, et al. Mitochondrial gene replacement in primate offspring and embryonic stem cells. Nature 2009; 461: 367-72.
45. Craven L, Tuppen HA, Greggains GD, et al. Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease. Nature 2010; 465: 82-85.
46. Schapira AHV, Cooper JM, Dexter D, Jenner P, Clark JB, Marsden CD. Mitochondrial complex I deficiency in Parkinson's disease. Lancet 1989; 333: 1269. (Pubitemid 19140359)
47. Schapira AHV, Cooper JM, Dexter D, Clark JB, Jenner P, Marsden CD. Mitochondrial complex I deficiency in Parkinson's disease. J Neurochem 1990; 54: 823-27.
48. Schapira AHV. Mitochondria in the aetiology and pathogenesis of Parkinson's disease. Lancet Neurol 2008; 7: 97-109.
49. Mann VM, Cooper JM, Schapira AH. Quantitation of a mitochondrial DNA deletion in Parkinson's disease. FEBS Lett 1992; 299: 218-22.
50. Bender A, Krishnan KJ, Morris CM, et al. High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease. Nat Genet 2006; 38: 515-17.
51. Simon DK, Pankratz N, Kissell DK, et al. Maternal inheritance and mitochondrial DNA variants in familial Parkinson's disease. BMC Med Genet 2010; 11: 53.
52. Schapira AH, Agid Y, Barone P, et al. Perspectives on recent advances in the understanding and treatment of Parkinson's disease. Eur J Neurol 2009; 16: 1090-99.
53. Valente EM, Abou-Sleiman PM, Caputo V, et al. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 2004; 304: 1158-60. (Pubitemid 38661852)
54. Abramov AY, Gegg M, Grunewald A, Wood NW, Klein C, Schapira AH. Bioenergetic consequences of PINK1 mutations in Parkinson disease. PLoS One 2011; 6: e25622.
55. Gandhi S, Wood-Kaczmar A, Yao Z, et al. PINK1-associated Parkinson's disease is caused by neuronal vulnerability to calcium-induced cell death. Mol Cell 2009; 33: 627-38.
56. Gegg ME, Cooper JM, Schapira AH, Taanman JW. Silencing of PINK1 expression affects mitochondrial DNA and oxidative phosphorylation in dopaminergic cells. PLoS One 2009; 4: e4756.
57. Hoepken HH, Gispert S, Morales B, et al. Mitochondrial dysfunction, peroxidation damage and changes in glutathione metabolism in PARK6. Neurobiol Dis 2007; 25: 401-11. (Pubitemid 46124020)
58. Grunewald A, Gegg ME, Taanman JW, et al. Differential effects of PINK1 nonsense and missense mutations on mitochondrial function and morphology. Exp Neurol 2009; 219: 266-73.
59. Gispert S, Ricciardi F, Kurz A, et al. Parkinson phenotype in aged PINK1-deficient mice is accompanied by progressive mitochondrial dysfunction in absence of neurodegeneration. PLoS One 2009; 4: e5777.
60. Greene JC, Whitworth AJ, Kuo I, Andrews LA, Feany MB, Pallanck LJ. Mitochondrial pathology and apoptotic muscle degeneration in Drosophila parkin mutants. Proc Natl Acad Sci USA 2003; 100: 4078-83. (Pubitemid 36418160)
61. Muftuoglu M, Elibol B, Dalmizrak O, et al. Mitochondrial complex I and IV activities in leukocytes from patients with parkin mutations. Mov Disord 2004; 19: 544-48.
62. Grunewald A, Voges L, Rakovic A, et al. Mutant Parkin impairs mitochondrial function and morphology in human fibroblasts. PLoS One 2010; 5: e12962.
63. Shin JH, Ko HS, Kang H, et al. PARIS (ZNF746) repression of PGC-1alpha contributes to neurodegeneration in Parkinson's disease. Cell 2011; 144: 689-702.
64. Alvarez-Erviti L, Rodriguez-Oroz MC, Cooper JM, et al. Chaperone-mediated autophagy markers in Parkinson disease brains. Arch Neurol 2010; 67: 1464-72.
65. Tain LS, Mortiboys H, Tao RN, Ziviani E, Bandmann O, Whitworth AJ. Rapamycin activation of 4E-BP prevents parkinsonian dopaminergic neuron loss. Nat Neurosci 2009; 12: 1129-35.
66. Guzman JN, Sanchez-Padilla J, Wokosin D, et al. Oxidant stress evoked by pacemaking in dopaminergic neurons is attenuated by DJ-1. Nature 2010; 468: 696-700.
67. Batelli S, Albani D, Rametta R, et al. DJ-1 modulates alpha-synuclein aggregation state in a cellular model of oxidative stress: relevance for Parkinson's disease and involvement of HSP70. PLoS One 2008; 3: e1884.
68. Li WW, Yang R, Guo JC, et al. Localization of alpha-synuclein to mitochondria within midbrain of mice. Neuroreport 2007; 18: 1543-46. (Pubitemid 47476380)
69. Nakamura K, Nemani VM, Wallender EK, Kaehlcke K, Ott M, Edwards RH. Optical reporters for the conformation of alpha-synuclein reveal a specific interaction with mitochondria. J Neurosci 2008; 28: 12305-17.
70. Liu G, Zhang C, Yin J, et al. alpha-Synuclein is differentially expressed in mitochondria from different rat brain regions and dose-dependently down-regulates complex I activity. Neurosci Lett 2009; 454: 187-92.
71. Devi L, Raghavendran V, Prabhu BM, Avadhani NG, Anandatheerthavarada HK. Mitochondrial import and accumulation of alpha-synuclein impair complex I in human dopaminergic neuronal cultures and Parkinson disease brain. J Biol Chem 2008; 283: 9089-100.
72. Warner TT, Schapira AH. Genetic and environmental factors in the cause of Parkinson's disease. Ann Neurol 2003; 53 (suppl 3): S16-S23.
73. Schapira AH. Complex I: inhibitors, inhibition and neurodegeneration. Exp Neurol 2010; 224: 331-35.
74. Hollerhage M, Matusch A, Champy P, et al. Natural lipophilic inhibitors of mitochondrial complex I are candidate toxins for sporadic neurodegenerative tau pathologies. Exp Neurol 2009; 220: 133-42.
75. Roses AD, Lutz MW, Amrine-Madsen H, et al. A TOMM40 variable-length polymorphism predicts the age of late-onset Alzheimer's disease. Pharmacogenomics J 2010; 10: 375-84.
76. Devi L, Prabhu BM, Galati DF, Avadhani NG, Anandatheerthavarada HK. Accumulation of amyloid precursor protein in the mitochondrial import channels of human Alzheimer's disease brain is associated with mitochondrial dysfunction. J Neurosci 2006; 26: 9057-68. (Pubitemid 44319397)
77. Area-Gomez E, de Groof AJ, Boldogh I, et al. Presenilins are enriched in endoplasmic reticulum membranes associated with mitochondria. Am J Pathol 2009; 175: 1810-16.
78. de Brito OM, Scorrano L. Mitofusin 2 tethers endoplasmic reticulum to mitochondria. Nature 2008; 456: 605-10.
79. Puglielli L, Konopka G, Pack-Chung E, et al. Acyl-coenzyme A: cholesterol acyltransferase modulates the generation of the amyloid beta-peptide. Nat Cell Biol 2001; 3: 905-12. (Pubitemid 32952255)
80. Manczak M, Anekonda TS, Henson E, Park BS, Quinn J, Reddy PH. Mitochondria are a direct site of A beta accumulation in Alzheimer's disease neurons: implications for free radical generation and oxidative damage in disease progression. Hum Mol Genet 2006; 15: 1437-49.
81. Demuro A, Parker I, Stutzmann GE. Calcium signaling and amyloid toxicity in Alzheimer disease. J Biol Chem 2010; 285: 12463-68.
82. Supnet C, Bezprozvanny I. The dysregulation of intracellular calcium in Alzheimer disease. Cell Calcium 2010; 47: 183-89.
83. Cheung KH, Mei L, Mak DO, et al. Gain-of-function enhancement of IP3 receptor modal gating by familial Alzheimer's disease-linked presenilin mutants in human cells and mouse neurons. Sci Signal 2010; 3: ra22.
84. Rhein V, Song X, Wiesner A, et al. Amyloid-beta and tau synergistically impair the oxidative phosphorylation system in triple transgenic Alzheimer's disease mice. Proc Natl Acad Sci USA 2009; 106: 20057-62.
85. Gu M, Gash MT, Mann VM, Javoy-Agid F, Cooper JM, Schapira AH. Mitochondrial defect in Huntington's disease caudate nucleus. Ann Neurol 1996; 39: 385-89. (Pubitemid 26100764)
86. Tabrizi SJ, Cleeter MW, Xuereb J, Taanman JW, Cooper JM, Schapira AH. Biochemical abnormalities and excitotoxicity in Huntington's disease brain. Ann Neurol 1999; 45: 25-32. (Pubitemid 29036428)
87. Browne SE, Bowling AC, MacGarvey U, et al. Oxidative damage and metabolic dysfunction in Huntington's disease: selective vulnerability of the basal ganglia. Ann Neurol 1997; 41: 646-53. (Pubitemid 27212659)
88. Lodi R, Schapira AH, Manners D, et al. Abnormal in vivo skeletal muscle energy metabolism in Huntington's disease and dentatorubropallidoluysian atrophy. Ann Neurol 2000; 48: 72-76. (Pubitemid 30432433)
89. Lim D, Fedrizzi L, Tartari M, et al. Calcium homeostasis and mitochondrial dysfunction in striatal neurons of Huntington disease. J Biol Chem 2008; 283: 5780-89.
90. Orr AL, Li S, Wang CE, et al. N-terminal mutant huntingtin associates with mitochondria and impairs mitochondrial trafficking. J Neurosci 2008; 28: 2783-92. (Pubitemid 351398886)
91. Kaltenbach LS, Romero E, Becklin RR, et al. Huntingtin interacting proteins are genetic modifiers of neurodegeneration. PLoS Genet 2007; 3: e82.
92. Wang H, Lim PJ, Karbowski M, Monteiro MJ. Effects of overexpression of huntingtin proteins on mitochondrial integrity. Hum Mol Genet 2009; 18: 737-52.
93. Costa V, Giacomello M, Hudec R, et al. Mitochondrial fission and cristae disruption increase the response of cell models of Huntington's disease to apoptotic stimuli. EMBO Mol Med 2010; 2: 490-503.
94. Kim J, Moody JP, Edgerly CK, et al. Mitochondrial loss, dysfunction and altered dynamics in Huntington's disease. Hum Mol Genet 2010; 19: 3919-35.
95. Cui L, Jeong H, Borovecki F, Parkhurst CN, Tanese N, Krainc D. Transcriptional repression of PGC-1alpha by mutant huntingtin leads to mitochondrial dysfunction and neurodegeneration. Cell 2006; 127: 59-69. (Pubitemid 44466642)
96. Chaturvedi RK, Adhihetty P, Shukla S, et al. Impaired PGC-1alpha function in muscle in Huntington's disease. Hum Mol Genet 2009; 18: 3048-65.
97. St-Pierre J, Drori S, Uldry M, et al. Suppression of reactive oxygen species and neurodegeneration by the PGC-1 transcriptional coactivators. Cell 2006; 127: 397-408. (Pubitemid 44572377)
98. Martin LJ. Mitochondrial pathobiology in Parkinson's disease and amyotrophic lateral sclerosis and amyotrophic lateral sclerosis. J Alzheimers Dis 2010; 20 (suppl 2): S335-S356.
99. Santos R, Lefevre S, Sliwa D, Seguin A, Camadro JM, Lesuisse E. Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities. Antioxid Redox Signal 2010; 13: 651-90.
100. Ferreirinha F, Quattrini A, Pirozzi M, et al. Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport. J Clin Invest 2004; 113: 231-42. (Pubitemid 38544208)
101. Calvo J, Funalot B, Ouvrier RA, et al. Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. Arch Neurol 2009; 66: 1511-16.
102. Del BR, Moggio M, Rango M, et al. Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction. Neurology 2008; 71: 1959-66.
103. Hudson G, Amati-Bonneau P, Blakely EL, et al. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. Brain 2008; 131: 329-37. (Pubitemid 351197604)
104. Cho DH, Nakamura T, Lipton SA. Mitochondrial dynamics in cell death and neurodegeneration. Cell Mol Life Sci 2010; 67: 3435-47.
105. Carelli V, La MC, Valentino ML, Barboni P, Ross-Cisneros FN, Sadun AA. Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders. Biochim Biophys Acta 2009; 1787: 518-28.
106. Kong GY, Van Bergen NJ, Trounce IA, Crowston JG. Mitochondrial dysfunction and glaucoma. J Glaucoma 2009; 18: 93-100.
107. Lascaratos G, Garway-Heath DF, Willoughby CE, Chau KY, Schapira AH. Mitochondrial dysfunction in glaucoma: understanding genetic influences. Mitochondrion 2012; 12: 202-12.
108. Nucci C, Tartaglione R, Rombola L, Morrone LA, Fazzi E, Bagetta G. Neurochemical evidence to implicate elevated glutamate in the mechanisms of high intraocular pressure (IOP)-induced retinal ganglion cell death in rat. Neurotoxicology 2005; 26: 935-41. (Pubitemid 41427534)
109. Jitrapakdee S, Wutthisathapornchai A, Wallace JC, MacDonald MJ. Regulation of insulin secretion: role of mitochondrial signalling. Diabetologia 2010; 53: 1019-32.
110. Patti ME, Corvera S. The role of mitochondria in the pathogenesis of type 2 diabetes. Endocr Rev 2010; 31: 364-95.
111. Ritov VB, Menshikova EV, Azuma K, et al. Deficiency of electron transport chain in human skeletal muscle mitochondria in type 2 diabetes mellitus and obesity. Am J Physiol Endocrinol Metab 2010; 298: E49-E58.
112. Kacerovsky-Bielesz G, Chmelik M, Ling C, et al. Short-term exercise training does not stimulate skeletal muscle ATP synthesis in relatives of humans with type 2 diabetes. Diabetes 2009; 58: 1333-41.
113. Patti ME, Butte AJ, Crunkhorn S, et al. Coordinated reduction of genes of oxidative metabolism in humans with insulin resistance and diabetes: Potential role of PGC1 and NRF1. Proc Natl Acad Sci USA 2003; 100: 8466-71. (Pubitemid 36842568)
114. Ronn T, Poulsen P, Tuomi T, et al. Genetic variation in ATP5O is associated with skeletal muscle ATP50 mRNA expression and glucose uptake in young twins. PLoS One 2009; 4: e4793.
115. Scheele C, Nielsen AR, Walden TB, et al. Altered regulation of the PINK1 locus: a link between type 2 diabetes and neurodegeneration? FASEB J 2007; 21: 3653-65. (Pubitemid 350075153)
116. Schiff M, Loublier S, Coulibaly A, Benit P, de Baulny HO, Rustin P. Mitochondria and diabetes mellitus: untangling a conflictive relationship? J Inherit Metab Dis 2009; 32: 684-98.
117. Mootha VK, Lindgren CM, Eriksson KF, et al. PGC-1alpharesponsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes. Nat Genet 2003; 34: 267-73. (Pubitemid 36792858)
118. Lira VA, Benton CR, Yan Z, Bonen A. PGC-1alpha regulation by exercise training and its influences on muscle function and insulin sensitivity. Am J Physiol Endocrinol Metab 2010; 299: E145-E161.
119. Kerr DS. Treatment of mitochondrial electron transport chain disorders: a review of clinical trials over the past decade. Mol Genet Metab 2010; 99: 246-55.
120. Shults CW, Oakes D, Kieburtz K, et al. Effects of coenzyme Q10 in early Parkinson disease: evidence of slowing of the functional decline. Arch Neurol 2002; 59: 1541-50.
121. Storch A, Jost WH, Vieregge P, et al. Randomized, double-blind, placebo-controlled trial on symptomatic effects of coenzyme Q(10) in Parkinson disease. Arch Neurol 2007; 64: 938-44. (Pubitemid 47047992)
122. The Huntington Study Group. A randomized, placebo-controlled trial of coenzyme Q10 and remacemide in Huntington's disease. Neurology 2001; 57: 397-404.
123. Hart PE, Lodi R, Rajagopalan B, et al. Antioxidant treatment of patients with Friedreich ataxia: four-year follow-up. Arch Neurol 2005; 62: 621-26. (Pubitemid 40489896)
124. Cooper JM, Korlipara LV, Hart PE, Bradley JL, Schapira AH. Coenzyme Q10 and vitamin E deficiency in Friedreich's ataxia: predictor of efficacy of vitamin E and coenzyme Q10 therapy. Eur J Neurol 2008; 15: 1371-19.
125. Lynch DR, Perlman SL, Meier T. A phase 3, double-blind, placebo-controlled trial of idebenone in Friedreich ataxia. Arch Neurol 2010; 67: 941-47.
126. Di Prospero NA, Baker A, Jeffries N, Fischbeck KH. Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial. Lancet Neurol 2007; 6: 878-86. (Pubitemid 47404985)
127. Murphy MP, Smith RA. Targeting antioxidants to mitochondria by conjugation to lipophilic cations. Annu Rev Pharmacol Toxicol 2007; 47: 629-56.
128. Bender A, Koch W, Elstner M, et al. Creatine supplementation in Parkinson disease: a placebo-controlled randomized pilot trial. Neurology 2006; 67: 1262-64. (Pubitemid 44563840)
129. NINDS NET-PD Investigators. A randomized, double-blind, futility clinical trial of creatine and minocycline in early Parkinson disease. Neurology 2006; 66: 664-71.
130. Tabrizi SJ, Blamire AM, Manners DN, et al. High-dose creatine therapy for Huntington disease: a 2-year clinical and MRS study. Neurology 2005; 64: 1655-56. (Pubitemid 40617715)
131. Hersch SM, Gevorkian S, Marder K, et al. Creatine in Huntington disease is safe, tolerable, bioavailable in brain and reduces serum 8OH2'dG. Neurology 2006; 66: 250-52. (Pubitemid 43970166)
132. Blander G, Guarente L. The Sir2 family of protein deacetylases. Annu Rev Biochem 2004; 73: 417-35. (Pubitemid 39050375)
133. Rodgers JT, Lerin C, Haas W, Gygi SP, Spiegelman BM, Puigserver P. Nutrient control of glucose homeostasis through a complex of PGC-1alpha and SIRT1. Nature 2005; 434: 113-18. (Pubitemid 40349395)
134. Howitz KT, Bitterman KJ, Cohen HY, et al. Small molecule activators of sirtuins extend Saccharomyces cerevisiae lifespan. Nature 2003; 425: 191-96. (Pubitemid 37150899)
135. Lagouge M, Argmann C, Gerhart-Hines Z, et al. Resveratrol improves mitochondrial function and protects against metabolic disease by activating SIRT1 and PGC-1alpha. Cell 2006; 127: 1109-22. (Pubitemid 44894520)
136. Khan MM, Ahmad A, Ishrat T, et al. Resveratrol attenuates 6-hydroxydopamine-induced oxidative damage and dopamine depletion in rat model of Parkinson's disease. Brain Res 2010; 1328: 139-51.
137. Maher P, Dargusch R, Bodai L, Gerard PE, Purcell JM, Marsh JL. ERK activation by the polyphenols fisetin and resveratrol provides neuroprotection in multiple models of Huntington's disease. Hum Mol Genet 2011; 20: 261-70.
138. Ho DJ, Calingasan NY, Wille E, Dumont M, Beal MF. Resveratrol protects against peripheral deficits in a mouse model of Huntington's disease. Exp Neurol 2010; 225: 74-84.
139. Anekonda TS, Reddy PH. Neuronal protection by sirtuins in Alzheimer's disease. J Neurochem 2006; 96: 305-13.
140. Wenz T, Diaz F, Spiegelman BM, Moraes CT. Activation of the PPAR/PGC-1alpha pathway prevents a bioenergetic deficit and effectively improves a mitochondrial myopathy phenotype. Cell Metab 2008; 8: 249-56.