Mutations that affect mitochondrial functions and their association with neurodegenerative diseases

Mutation Research - Reviews in Mutation Research

Volumn 759, Issue 1, 2014, Pages 1-13

  Dhillon, Varinderpal S ^a,b   Fenech, Michael ^a,b  

^a CSIRO Preventative Health Flagship   (Australia)

^b CSIRO   (Australia)

Author keywords

Ageing; DNA deletions; Mitochondria; Mutation; Neurodegenerative diseases

Indexed keywords

MITOCHONDRIAL DNA;

AGING; ALZHEIMER DISEASE; AMYOTROPHIC LATERAL SCLEROSIS; CELL FUNCTION; DEGENERATIVE DISEASE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA DAMAGE; GENE DELETION; GENETIC ASSOCIATION; HUMAN; HUNTINGTON CHOREA; MITOCHONDRIAL GENOME; MITOCHONDRIAL RESPIRATION; MITOCHONDRION; MOTOR NEURON DISEASE; NONHUMAN; PARKINSON DISEASE; PATHOGENESIS; POINT MUTATION; PRIORITY JOURNAL; REVIEW; DNA REPAIR; GENETICS; NEURODEGENERATIVE DISEASES; PATHOLOGY;

AGING; DNA REPAIR; DNA, MITOCHONDRIAL; HUMANS; MITOCHONDRIA; NEURODEGENERATIVE DISEASES; POINT MUTATION; SEQUENCE DELETION;

EID: 84894243395     PISSN: 13835742     EISSN: 13882139     Source Type: Journal    
DOI: 10.1016/j.mrrev.2013.09.001     Document Type: Review

References (203)

1. Falkenberg M., Larsson N.G., Gustafsson C.M. DNA replication and transcription in mammalian mitochondria. Annu. Rev. Biochem. 2007, 76:679-699.
2. Rorbach J., Soleimanpour-Lichaei R., Lightowlers R.N., Chrzanowska-Lightowlers Z.M. How do mammalian mitochondria synthesize proteins?. Biochem. Soc. Trans. 2007, 35:1290-1291.
3. Tatsuta T., Langer T. Quality control of mitochondria: protection against neurodegeneration and ageing. EMBO J. 2008, 27:306-314.
4. Bolender N., Sickmann A., Wagner R., Meisinger C., Pfanner N. Multiple pathways for sorting mitochondrial precursor proteins. EMBO Rep. 2008, 9:42-49.
5. Detmer S.A., Chan D.C. Functions and dysfunctions of mitochondrial dynamics. Nat. Rev. Mol. Cell Biol. 2007, 8:870-879.
6. Hoppins S., Lackner L., Nunnari J. The machines that divide and fuse mitochondria. Annu. Rev. Biochem. 2007, 76:751-780.
7. Lill R., Muhlenhoff U. Maturation of iron-sulfur proteins in eukaryotes: mechanisms, connected processes, and diseases. Annu. Rev. Biochem. 2008, 77:669-700.
8. Eaton S., Bartlett K., Pourfarzam M. Mammalian mitochondrial β-oxidation. Biochem. J. 1996, 320:345-357.
9. Kaguni L.S. DNA polymerase γ the mitochondrial replicase. Annu. Rev. Biochem. 2004, 73:293-320.
10. Carrodeguas J.A., Theis K., Bogenhagen D.F., Kisker C. Crystal structure and deletion analysis show that the accessory subunit of mammalian DNA polymerase gamma, Pol gamma B, functions as a homodimer. Mol. Cell 2001, 7:43-54.
11. Korhonen J.A., Gaspari M., Falkenberg M. TWINKLE has 5'→3' DNA helicase activity and is specifically stimulated by mitochondrial single-stranded DNA-binding protein. J. Biol. Chem. 2003, 278:48627-48632.
12. Trifunovic A., Wredenberg A., Falkenberg M., Spelbrink J.N., Rovio A.T., Bruder C.E., Bohlooly Y.M., Gidlof S., Oldfors A., Wibom R., Tornell J., Jacobs H.T., Larsson N.G. Premature ageing in mice expressing defective mitochondrial DNA polymerase. Nature 2004, 429:417-423.
13. Taylor R.W., Turnbull D.M. Mitochondrial DNA mutations in human disease. Nat. Rev. Genet. 2005, 6:389-402.
14. Lin M.T., Beal M.F. Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases. Nature 2006, 443:787-795.
15. Fernandez-Checa J.C., Fernandez A., Morales A., Mari M., Garcia-Ruiz C., Colell A. Oxidative stress and altered mitochondrial function in neurodegenerative diseases: lessons from mouse models. CNS Neurol. Disord. Drug Targets 2010, 9:439-454.
16. Tait S.W., Green D.R. Mitochondria and cell death: outer membrane permeabilization and beyond. Nat. Rev. Mol. Cell Biol. 2010, 11:621-632.
17. Wasilewski M., Scorrano L. The changing shape of mitochondrial apoptosis. Trends Endocrinol. Metab. 2009, 20:287-294.
18. Danial N.N., Korsmeyer S.J. Cell death: critical control points. Cell 2004, 116:205-219.
19. Linnane A.W., Marzuki S., Ozawa T., Tanaka M. Mitochondrial DNA mutations as an important contributor to ageing and degenerative diseases. Lancet 1989, 1:642-645.
20. Kirkwood T.B. Understanding the odd science of ageing. Cell 2005, 120:437-447.
21. Krishnan K.J., Greaves L.C., Reeve A.K., Turnbull D. The ageing mitochondrial genome. Nucleic Acids Res. 2007, 35:7399-7405.
22. Terzioglu M., Larsson N.G. Mitochondrial dysfunction in mammalian ageing. Novartis Found. Symp. 2007, 287:197-208.
23. Trifunovic A., Larsson N.G. Mitochondrial dysfunction as a cause of ageing. J. Int. Med. 2008, 263:167-178.
24. Piko L., Hougham A.J., Bulpitt K.J. Studies of sequence heterogeneity of mitochondrial DNA from rat and mouse tissues: evidence for an increased frequency of deletions/additions with aging. Mech. Ageing Dev. 1988, 43:279-293.
25. Wanagat J., Cao Z., Pathare P., Aiken J.M. Mitochondrial DNA deletion mutations colocalize with segmental electron transport system abnormalities, muscle fiber atrophy, fiber splitting, and oxidative damage in sarcopenia. FASEB J. 2001, 15:322-332.
26. Schwarze S.R., Lee C.M., Chung S.S., Roecker E.B., Weindruch R., Aiken J.M. High levels of mitochondrial DNA deletions in skeletal muscle of old rhesus monkeys. Mech. Ageing Dev. 1995, 83:91-101.
27. Trifunovic A., Larsson N.G. Tissue-specific knockout model for study of mitochondrial DNA mutation disorders. Methods Enzymol. 2002, 353:409-421.
28. Harman D. Aging: a theory based on free radical and radiation chemistry. J. Gerontol. 1956, 11:298-300.
29. Lapointe J., Hekimi S. When a theory of aging ages badly. Cell Mol. Life Sci. 2010, 67:1-8.
30. Ishii N., Fujii M., Hartman P.S., Tsuda M., Yasuda K., Senoo-Matsuda N., Yanase S., Ayusawa D., Suzuki K. A mutation in succinate dehydrogenase cytochrome b causes oxidative stress and ageing in nematodes. Nature 1998, 394:694-697.
31. Martin I., Jones M.A., Rhodenizer D., Zheng J., Warrick J.M., Seroude L., Grotewiel M. Sod2 knockdown in the musculature has whole organism consequences in Drosophila. Free Radic. Biol. Med. 2009, 47:803-813.
32. Sun J., Tower J. FLP recombinase-mediated induction of Cu/Zn-superoxide dismutase transgene expression can extend the life span of adult Drosophila melanogaster flies. Mol. Cell Biol. 1999, 19:216-228.
33. van Raamsdonk J.M., Hekimi S. Deletion of the mitochondrial superoxide dismutase sod-2 extends lifespan in Caenorhabditis elegans. PLoS Genet. 2009, 5:e1000361.
34. Jang Y.C., Perez V.I., Song W., Lustgarten M.S., Salmon A.B., Mele J., Qi W., Liu Y., Liang H., Chaudhuri A., Ikeno Y., Epstein C.J., van Remmen H., Richardson A. Overexpression of Mn superoxide dismutase does not increase life span in mice. J. Gerontol. A: Biol. Sci. Med. Sci. 2009, 64:1114-1125.
35. Schriner S.E., Linford N.J., Martin G.M., Treuting P., Ogburn C.E., Emond M., Coskun P.E., Ladiges W., Wolf N., van Remmen H., Wallace D.C., Rabinovitch P.S. Extension of murine life span by overexpression of catalase targeted to mitochondria. Science 2005, 308:1909-1911.
36. Cooper J.M., Mann V.M., Schapira A.H. Analyses of mitochondrial respiratory chain function and mitochondrial DNA deletion in human skeletal muscle: effect of ageing. J. Neurol. Sci. 1992, 113:91-98.
37. Reddy P.H. Amyloid precursor protein-mediated free radicals and oxidative damage: implications for the development and progression of Alzheimer's disease. J. Neurochem. 2006, 96:1-13.
38. Vinogradov A.D., Grivennikova V.G. Generation of superoxide-radical by the NADH:ubiquinone oxidoreductase of heart mitochondria. Biochemistry (Mosc.) 2005, 70:120-127.
39. Filosto M., Scarpelli M., Cotelli M.S., Vielmi V., Todeschini A., Gregorelli V., Tonin P., Tomelleri G., Padovani A. The role of mitochondria in neurodegenerative diseases. J. Neurol. 2011, 258:1763-1774.
40. Federico A., Cardaioli E., Da Pozzo P., Formichi P., Gallus G.N., Radi E. Mitochondria, oxidative stress and neurodegeneration. J. Neurol. Sci. 2012, 322:254-262.
41. Kujoth G.C., Leeuwenburgh C., Prolla T.A. Mitochondrial DNA mutations and apoptosis in mammalian aging. Cancer Res. 2006, 66:7386-7389.
42. Schon E.A., Rizzuto R., Moraes C.T., Nakase H., Zeviani M., DiMauro S. A direct repeat is a hot spot for large-scale deletion of human mitochondrial DNA. Science 1989, 244:346-349.
43. Shoffner J.M., Lott M.T., Voljavec A.S., Soueidan S.A., Costigan D.A., Wallace D.C. 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. 1989, 86:7952-7956.
44. Schon E.A., Bonilla E., DiMauro S. Mitochondrial DNA mutations and pathogenesis. J. Bioenerg. Biomembr. 1997, 29:131-149.
45. Zeviani M., Bresolin N., Gellera C., Bordoni A., Pannacci M., Amati P., Moggio M., Servidei S., Scarlato G., DiDonato S. Nucleus-driven multiple largescale deletions of the human mitochondrial genome: a new autosomal dominant disease. Am. J. Hum. Genet. 1990, 47:904-914.
46. Nishino I., Spinazzola A., Papadimitriou A., Hammans S., Steiner I., Hahn C.D., Connolly A.M., Verloes A., Guimaraes J., Maillard I., Hamano H., Donati M.A., Semrad C.E., Russell J.A., Andreu A.L., Hadjigeorgiou G.M., Vu T.H., Tadesse S., Nygaard T.G., Nonaka I., Hirano I., Bonilla E., Rowland L.P., DiMauro S., Hirano M. Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. Ann. Neurol. 2000, 47:792-800.
47. Gellerich F.N., Deschauer M., Chen Y., Muller T., Neudecker S., Zierz S. Mitochondrial respiratory rates and activities of respiratory chain complexes correlate linearly with heteroplasmy of deleted mtDNA without threshold and independently of deletion size. Biochem. Biophys. Acta. 2002, 1556:41-52.
48. Wallace D.C. Mitochondrial genetics: a paradigm for aging and degenerative diseases. Science 1992, 256:628-632.
49. Goto Y., Nonaka I., Horai S. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990, 348:651-653.
50. Majamaa K., Moilanen J.S., Uimonen S., Remes A.M., Salmela P.I., Karppa M., Majamaa-Voltti K.A., Rusanen H., Sorri M., Peuhkurinen K.J., Hassinen I.E. Epidemiology of A3243G, the mutation for mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. Am. J. Hum. Genet. 1998, 63:447-454.
51. Seidowsky A., Hoffman M., Glowacki E., Dhaenens C.M., Devaux J.P., Lessore de Sainte Foy C., Provot F., Ghecrbrant J.D., Hummel A., Hazzan M., Dracon M., Dieux-Coeslier A., Copin M.C., Noel C., Bueb D. Renal involvement in MELAS syndrome - a series of 5 cases and review of literature. Clin. Nephrol. 2012 August, [Epub ahead of print].
52. Yoshida T., Ouchi A., Miura D., Shimoji K., Kinjo K., Sueyoshi T., Jonosono M., Rajput V. MELAS and reversible vasoconstriction of the major arteries. Intern. Med. 2013, 52:1389-1392.
53. Wang Z., Xiao J., Xie S., Zhao D., Liu X., Zhang J., Yuan Y., Huang Y. MR. evaluation of cerebral oxygen metabolism and blood flow in stroke-like episodes of MELAS. J. Neurol. Sci. 2012, 323:173-177.
54. Aharoni S., Traves T.A., Melamed E., Cohen S., Silver E.L. MELAS syndrome associated with multiple mitochondrial DNA deletions. J. Neurol. 2010, 296:101-103.
55. Mezghani N., Mnif M., Kacem M., Mkaouar-Rebai E., Hadj Salem I., Kallel N., Charfi N., Abid M., Fakhfakh F. A whole mitochondrial genome screening in a MELAs patient: a novel mitochondrial tRNAVal mutation. Biochem. Biophys. Res. Commun. 2011, 407:747-752.
56. Mkaouar E., Chamkha I., Mezghani N., Ben Ayed I., Fakhfakh F. Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders: an overview study. Mitochondrial DNA 2013, 24:163-178.
57. Lin J., Zhao C.B., Lu J.H., Wang H.J., Zhu W.H., Xi J.Y., Lu J., Luo S.S., Ma D., Wang Y., Xiao B.G., Lu C.Z. Novel mutations m.3959G>A and m.3995A>G in mitochondrial gene MT-ND1 associated with MELAS. Mitochondrial DNA 2013 July, [Epub ahead of Print].
58. Santorelli F.M., Tanji K., Kulikova R., Shanske S., Vilarinho L., Hays A.P., DiMauro S. Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. Biochem. Biophys. Res. Commun. 1997, 238:326-328.
59. Lim P.S., Cheng Y.M., Wei Y.H. Large-scale mitochondrial DNA deletions in skeletal muscles of patients with end-stage renal disease. Free Radic. Biol. Med. 2000, 29:454-463.
60. Remes A.M., Karppa M., Karvonen S.L., Rusanen H., Hassinen I.E., Majamaa K., Uimonen S., Sorri M., Salmela P.I., Karvonen S.L., Karvonen S.L. Epidemiology of 8344A>G mtDNA mutation for myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. J. Neurol. Neurosurg. Psychiatry 2003, 74:1158-1159.
61. Lehtonen M.S., Uimonen S., Hassinen I.E., Majamaa K. Frequency of mitochondrial DNA point mutations among patients with familial sensorineural hearing impairment. Eur. J. Hum. Genet. 2000, 8:315-318.
62. Remes A.M., Majamaa-Voltti K., Karppa M., Moilanen J.S., Uimonen S., Helander H., Rusanen H., Salmela P.I., Sorri M., Hassinen I.E., Majamaa K. Prevalence of large-scale mitochondrial DNA deletions in an adult Finnish population. Neurology 2005, 64:976-981.
63. Pascolini D., Mariotti S.P., Pokharel G.P., Pararajasegaram R., Etyaale D., Negrel A.D., Resnikoff S. Global update of available data on visual impairment: a compilation of population-based prevalence studies. Ophthalmic Epidemiol. 2002, 2004:67-115.
64. Congdon N., O'Colmain B., Klaver C.C., Klein R., Munoz B., Friedman D.S., Kempen J., Taylor H.R., Mitchell P., Eye Diseases Prevalence Research Group Causes and prevalence of visual impairment among adults in the United States. Arch. Ophthalmol. 2004, 122:477-485.
65. Jones M., Manwaring N., Wang J.J., Rochtchina E., Mitchell P., Sue C. Mitochondrial DNA haplogroups and age-related maculopathy. Arch. Ophthalmol. 2007, 125:1235-1240.
66. SanGiovanni J.P., Arking D.E., Iyengar S.K., Elashoff M., Clemons T.E., Reed G.F., Henning A.K., Sivakumaran T.A., Xu X., DeWan A., Agron E., Rochtchina E., Sue C.M., Wang J.J., Mitchell P., Hoh J., Francis P.J., Klein M.L., Chew E.Y., Chakravarti A. Mitochondrial DNA variants of respiratory complex I that uniquely characterize haplogroup T2 are associated with increased risk of age-related macular degeneration. PLoS ONE 2009, 4:e5508.
67. Feher J., Kovacs I., Artico M., Cavallotti C., Papale A., Balacco-Gabrieli C. Mitochondrial alterations of retinal pigment epithelium in age-related macular degeneration. Neurobiol. Ageing 2006, 27:983-993.
68. Decanini A., Nordgaard C.L., Feng X., Ferrington D.A., Olsen T.W. Changes in select redox proteins of the retinal pigment epithelium in age-related macular degeneration. Am. J. Ophthalmol. 2007, 143:607-615.
69. Nordgaard C.L., Karunadharma P.P., Feng X., Olsen T.W., Ferrington D.A. Mitochondrial proteomics of the retinal pigment epithelium at progressive stages of age-related macular degeneration. Invest. Ophthalmol. Vis. Sci. 2008, 49:2848-2855.
70. Liang F.Q., Godley B.F. Oxidative stress-induced mitochondrial DNA damage in human retinal pigment epithelial cells: a possible mechanism for RPE aging and age related macular degeneration. Exp. Eye Res. 2003, 76:397-403.
71. Lin H., Xu H., Liang F.Q., Liang H., Gupta P., Havey A.N., Boulton M.E., Godley B.F. Mitochondrial DNA damage and repair in RPE associated with aging and age-related macular degeneration. Invest. Ophthalmol. Vis. Sci. 2011, 52:3521-3529.
72. Barreau E., Brossas J.Y., Courtois Y., Treton J.A. Accumulation of mitochondrial DNA deletions in human retina during aging. Invest. Ophthalmol. Vis. Sci. 1996, 37:384-391.
73. Wang A.L., Lukas T.J., Yuan M., Neufeld A.H. Increased mitochondrial DNA damage and down-regulation of DNA repair enzymes in aged rodent retinal pigment epithelium and choroid. Mol. Vis. 2008, 14:644-651.
74. Jarrett S.G., Boulton M.E. Poly(ADP-ribose) polymerase offers protection against oxidative and alkylation damage to the nuclear and mitochondrial genomes of the retinal pigment epithelium. Ophthalmic Res. 2007, 39:213-223.
75. Minati L., Edginton T., Bruzzone M.G., Giaccone G. Current concepts in Alzheimer's disease: a multidisciplinary review. Am. J. Alzheimers Dis. Other Demen. 2009, 24:95-121.
76. Baloyannis S.J. Dendritic pathology in Alzheimer's disease. J. Neurol. Sci. 2009, 283:153-157.
77. Swerdlow R.H., Khan S.M. A mitochondrial cascade hypothesis for sporadic Alzheimer's disease. Med. Hypotheses 2004, 63:8-20.
78. Swerdlow R.H., Khan S.M. The Alzheimer's disease mitochondrial cascade hypothesis: an update. Exp. Neurol. 2009, 218:308-315.
79. Swerdlow R.H. Is aging part of Alzheimer's disease, or is Alzheimer's disease part of aging?. Neurobiol. Aging 2007, 28:1465-1480.
80. Gouras G.K., Almeida C.G., Takahashi R.H. Intraneuronal Abeta accumulation and origin of plaques in Alzheimer's disease. Neurobiol. Aging 2005, 26:1235-1244.
81. Aliev G., Gasimov E., Obrenovic M.E., Fischbach K., Shenk J.C., Smith M.A., Perry G. Atherosclerotic lesions and mitochondria DNA deletions in brain microvessels: implication in the pathogenesis of Alzheimer's disease. Vasc. Health Risk Manag. 2008, 4:721-730.
82. Rhein V., Song X., Wiesner A., Ittner L.M., Baysang G., Meier F., Ozmen L., Bluethmann H., Drose S., Brandt U., Savaskan E., Czech C., Gotz J., Eckert A. Amyloid-beta and tau synergistically impair the oxidative phosphorylation system in triple transgenic Alzheimer's disease mice. Proc. Natl. Acad. Sci. U.S.A. 2009, 106:20057-20062.
83. Chen J.X., Yan S.S. Role of mitochondrial amyloid-beta in Alzheimer's disease. J. Alzheimers Dis. 2010, 20:S569-S578.
84. Devi L., Anandatheerthavarada H.K. Mitochondrial trafficking of APP and alpha synuclein: relevance to mitochondrial dysfunction in Alzheimer's and Parkinson's diseases. Biochim. Biophys. Acta 2010, 1802:11-19.
85. Querfurth H.W., LaFerla F.M. Alzheimer's disease. N. Engl. J. Med. 2010, 362:329-344.
86. Humphries K.M., Szweda L.I. Selective inactivation of alpha-ketoglutarate dehydrogenase and pyruvate dehydrogenase: reaction of lipoic acid with 4-hydroxy-2-nonenal. Biochemistry 1998, 37:15835-15841.
87. Roses A.D., Lutz M.W., Amrine-Madsen H., Saunders A.M., Crenshaw D.G., Sundseth S.S., Huentelman M.J., Welsh-Bohmer K.A., Reiman E.M. A TOMM40 variable-length polymorphism predicts the age of late-onset Alzheimer's disease. Pharmacogenomics J. 2010, 10:375-384.
88. Ferencz B., Karlsson S., Kalpouzos G. Promising genetic biomarkers of preclinical Alzheimer's disease: the influence of APOE and TOMM40 on brain integrity. Int. J. Alzheimers Dis. 2012, 2012. 421452.
89. Linnertz C., Saunders A.M., Lutz M.W., Crenshaw D.M., Grossman I., Burns D.K., Whitfield K.E., Hauser M.A., McCarthy J.J., Ulmer M., Allingham R., Welsh-Bohmer K.A., Roses A.D., Chiba-Falek O. Characterization of the poly-T variant in the TOMM40 gene in diverse populations. PLoS ONE 2012, 7:e30994.
90. Roses A.D., Lutz M.W., Crenshaw D.G., Grossman I., Saunders A.M., Gottschalk W.K. TOMM40 and APOE. Requirements for replication studies of association with age of disease onset and enrichment of a clinical trial. Alzheimers Demen. 2013, 9:132-136.
91. Lutz M.W., Crenshaw D.G., Saunders A.M., Roses A.D. Genetic variation at a single locus and age of onset for Alzheimer's disease. Alzheimers Demen. 2010, 6:125-131.
92. Onesto E., Rusmini P., Crippa V., Ferri N., Zito A., Galbiati M., Poletti A. Muscle cells and motoneurons differentially remove mutant SOD1 causing familial amyotrophic lateral sclerosis. J. Neurochem. 2011, 118:266-280.
93. Chong M.S., Goh L.K., Lim W.S., Chan M., Tay L., Chen G., Feng L., Ng T.P., Tan C.H., Lee T.S. Gene expression profiling of peripheral blood leukocytes shows consistent longitudinal downregulation of TOMM40 and upregulation of KIR2DL5A, PLOD1, and SLC2A8 among fast progressors in early Alzheimer's disease. J. Alzheimers Dis. 2013, 34:399-405.
94. Lee T.S., Goh L., Chong M.S., Chua S.M., Chen G.B., Feng L., Lim W.S., Chan M., Ng T.P., Krishnan K.R. Downregulation of TOMM40 expression in the blood of Alzheimer disease subjects compared with matched controls. J. Psychiatr. Res. 2012, 46:828-830.
95. Swerdlow R.H., Burns J.M., Khan S.M. The Alzheimer's disease mitochondrial cascade hypothesis. J. Alzheimers Dis. 2010, 20:S265-S279.
96. Parker W.D., Parks J.K. Cytochrome-c-oxidase in Alzheimer's disease brain: purification and characterization. Neurology 1995, 45:482-486.
97. King M.P., Attardi G. Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation. Science 1989, 246:500-503.
98. Trimmer P.A., Keeney P.M., Borland M.K., Simon F.A., Almeida J., Swerdlow R.H., Parks J.P., Parker W.D., Bennett J.P. Mitochondrial abnormalities in cybrid cell models of sporadic Alzheimer's disease worsen with passage in culture. Neurobiol. Dis. 2004, 15:29-39.
99. Khan S.M., Cassarino D.S., Abramova N.N., Keeney P.M., Borland M.K., Timmer P.A., Krebs C.T., Bennett J.C., Parks J.K., Swerdlow R.H., Parker W.D., Bennett J.P. Alzheimer's disease cybrids replicate beta-amyloid abnormalities through cell death pathways. Ann. Neurol. 2000, 48:148-155.
100. Escobar-Khondiker M., Hollerhage M., Muriel M.P., Champy P., Bach A., Depienne C., Respondek G., Yamada E.S., Lannuzel A., Yagi T., Hirsch ertel E.C., Oertel W.H.W.H., Jacob R., Michel P.P., Ruberg M., Hoglinger G.U. Annonacin, a natural mitochondrial complex I inhibitor, causes tau pathology in cultured neurons. J. Neurosci. 2007, 27:7827-7837.
101. Melov S., Adlard P.A., Morten K., Johnson F., Golden T.R., Hinerfeld D., Schilling B., Mavros C., Masters C.L., Volitakis I., Li Q.X., Laughton K., Hubbard A., Cherny R.A., Gibson B., Bush A.I. Mitochondrial oxidative stress causes hyperphosphorylation of tau. PLoS ONE 2007, 2:e536.
102. Swerdlow R.H., Parks J.K., Cassarino D.S., Maguire D.J., Maguire R.S., Bennett J.P., Davis R.E., Parker W.D. Cybrids in Alzheimer's disease: a cellular model of the disease?. Neurology 1997, 49:918-925.
103. Corral-Debrinski M., Horton T., Lott M.T., Shoffner J.M., McKee A.C., Beal M.F., Graham B.H., Wallace D.C. Marked changes in mitochondrial DNA deletion levels in Alzheimer brains. Genomics 1994, 23:471-476.
104. Wang J., Xiong S., Xie C., Markesbery W.R., Lovell M.A. Increased oxidative damage in nuclear and mitochondrial DNA in Alzheimer's disease. J. Neurochem. 2005, 93:953-962.
105. Coskun P.E., Beal M.F., Wallace D.C. Alzheimer's brains harbor somatic mtDNA control-region mutations that suppress mitochondrial transcription and replication. Proc. Natl. Acad. Sci. U.S.A. 2004, 101:10726-10731.
106. Tanaka N., Goto Y.I., Akanuma J., Kato M., Kinoshita T., Yamashita F., Tanaka M., Asada T. Mitochondrial DNA variants in a Japanese population of patients with Alzheimer's disease. Mitochondrion 2010, 10:32-37.
107. Elson J.L., Herrnstadt C., Preston G., Thal L., Morris C.M., Edwardson J.A.J.A., Beal M.F., Turnbull D.M., Howell N. Does the mitochondrial genome play a role in the etiology of Alzheimer's disease?. Hum. Genet. 2006, 119:241-254.
108. Devi L., Prabhu B.M., Galati D.F., Avadhani N.G., Anandatheerthavarada H.K. Accumulation of amyloid precursor protein in the mitochondrial import channels of human Alzheimer's disease brain is associated with mitochondrial dysfunction. J. Neurosci. 2006, 26:9057-9068.
109. Manczak M., Anekonda T.S., Henson E., Park B.S., Quinn J., Reddy P.H. 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, 15:1437-1449.
110. Lustbader J.W., Cirilli M., Lin C., Xu H.W., Takuma K., Wang N., Caspersen C., Chen X., Pollak S., Chaney M., Trinchese F., Liu S., Gunn-Moore F., Lue L.F., Walker D.G., Kuppusamy P., Zewier Z.L., Arancio O., Stern D., Yan S.S., Wu H. ABAD directly links Abeta to mitochondrial toxicity in Alzheimer's disease. Science 2004, 304:448-452.
111. Caspersen C., Wang N., Yao J., Sosunov A., Chen X., Lustbader J.W., Xu H.W., Stern D., Mckhann G., Yan S.D. Mitochondrial Abeta: a potential focal point for neuronal metabolic dysfunction in Alzheimer's disease. FASEB J. 2005, 19:2040-2041.
112. Hansson C.A., Frykman S., Farmery M.R., Tjernberg L.O., Nilsberth C., Pursglove S.E., Ito A., Winblad B., Cowburn R.F., Thyberg J., Ankarcrona M. Nicastrin, presenilin, APH-1, and PEN-2 form active gamma-secretase complexes in mitochondria. J. Biol. Chem. 2004, 279:51654-51660.
113. Fishel M.L., Vasko M.R., Kelley M.R. DNA repair in neurons: so if they don't divide what's to repair?. Mutat. Res. 2006, 614:24-36.
114. Weissman L., Jo D.G., Sorensen M.M., de Souza-Pinto N.C., Markesbery W.R., Mattson M.P., Bohr V.A. Defective DNA base excision repair in brain from individuals with Alzheimer's disease and amnestic mild cognitive impairment. Nucleic Acids Res. 2007, 35:5545-5555.
115. Hauptmann S., Keil U., Scherping I., Bonert A., Eckert A., Muller W.E. Mitochondrial dysfunction in sporadic and genetic Alzheimer's disease. Exp. Gerontol. 2006, 41:668-673.
116. Reddy P.H., Beal M.F. Amyloid beta, mitochondrial dysfunction and synaptic damage: implications for cognitive decline in aging and Alzheimer's disease. Trends Mol. Med. 2008, 14:45-53.
117. Swerdlow R.H., Kish S.J. Mitochondria in Alzheimer's disease. Int. Rev. Neurobiol. 2002, 53:341-385.
118. Valla J., Schneider L., Niedzielko T., Coon K.D., Caselli R., Sabbagh M.N., Ahern G.L., Baxter L., Alexander G., Walker D.G., Reiman E.M. Impaired platelet mitochondrial activity in Alzheimer's disease and mild cognitive impairment. Mitochondrion 2006, 6:323-330.
119. de La Monte S.M., Luong T., Neely T.R., Robinson D., Wands J.R. Mitochondrial DNA damage as a mechanism of cell loss in Alzheimer's disease. Lab. Invest. 2000, 80:1323-1335.
120. Hirai K., Aliev G., Nunomura A., Fujioka H., Russell R.L., Atwood C.S., Johnson A.B., Kress Y., Vinters H.V., Tabaton M., Shimohama S., Cash A.D., Siedlak S.L., Harris P.L.R., Jones P.K., Petersen R.B., Perry G., Smith M.A. Mitochondrial abnormalities in Alzheimer's disease. J. Neurosci. 2001, 21:3017-3023.
121. Parker W.D., Boyson S.J., Parks J.K. Abnormalities of the electron transport chain in idiopathic Parkinson's disease. Ann. Neurol. 1989, 26:719-723.
122. Schapira A.H.V., Cooper J.M., Dexter D., Jenner P., Clark J.B., Marsden C.D. Mitochondrial complex I deficiency in Parkinson's disease. Lancet 1989, 1:1269.
123. Hattori N., Tanaka M., Ozawa T., Mizuno Y. Immunohistochemical studies on complexes I, II, III, and IV of mitochondria in Parkinson's disease. Ann. Neurol. 1991, 30:563-571.
124. Zheng B., Liao Z., Locascio J.J., Lesniak K.A., Roderick S.S., Watt M.L., Eklund A.C., Zhang-James Y., Kim P.D., Hauser M.A., Grunblatt E., Moran L.B., Mandel S.A., Riederer P., Miller R.M., Federoff H.J., Wullner U., Papapetropoulos S., Youdim M.B., Cantuti-Castelvetri I., Young A.B., Vance J.M., Davis R.L., Hedreen J.C., Adler C.H., Beach T.G., Graeber M.B., Middleton F.A., Rochet J.C., Scherzer C.R., Global PD Gene Expression (GPEX) Consortium PGC-1α, a potential therapeutic target for early intervention in Parkinson's disease. Sci. Transl. Med. 2010, 2:52ra73.
125. Austin S., St-Pierre J. PGC1α and mitochondrial metabolism - emerging concepts and relevance in ageing and neurodegenerative disorders. J. Cell Sci. 2012, 125:4963-4971.
126. Fukuda M., Edwards C., Eidelberg D. Functional brain networks in Parkinson's disease. Parkinsonism Relat. Disord. 2001, 8:91-94.
127. Carbon M., Felice Ghilardi M., Dhawan V., Eidelberg D. Correlates of movement initiation and velocity in Parkinson's disease: a longitudinal PET study. Neuroimage 2007, 34:361-370.
128. Ikebe S., Tanaka M., Ohno K., Sato W., Hattori K., Kondo T., Mizuno Y., Ozawa T. Increase of deleted mitochondrial DNA in the striatum in Parkinson's disease and senescence. Biochem. Biophys. Res. Commun. 1990, 170:1044-1048.
129. Schapira A.H.V., Holt I.J., Sweeney M., Harding A.E., Jenner P., Marsden C.D. Mitochondrial DNA analysis in Parkinson's disease. Mov. Disord. 1990, 5:294-297.
130. Lestienne P., Nelson I., Riederer P., Reichmann H., Jellinger K. Mitochondrial DNA in postmortem brain from patients with Parkinson's disease. J. Neurochem. 1991, 56:1819.
131. Bender A., Krishnan K.J., Morris C.M., Taylor G.A., Reeve A.K., Perry R.H., Jaros E., Hersheson J.S., Betts J., Klopstock T., Taylor R.W., Turnbull D.M. High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease. Nat. Genet. 2006, 38:515-517.
132. Kraytsberg Y., Kudryavtseva E., Mckee A.C., Geula C., Kowall N.W., Khrapko K. Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons. Nat. Genet. 2006, 38:518-520.
133. Swerdlow R.H. The neurodegenerative mitochondriopathies. J. Alzheimers Dis. 2009, 17:737-751.
134. Thomas B. Parkinson's disease: from molecular pathways in disease to therapeutic approaches. Antioxid. Redox. Signal. 2009, 11:2077-2082.
135. Nishioka K., Vilarino-Guell C., Cobb S.A., Kachergus J.M., Ross O.A., Hentati E., Hentati F., Farrer M.J. Genetic variations of the mitochondrial complex I subunit NDUFV2 and Parkinson's disease. Parkinson Relat. Disord. 2010, 16:686-687.
136. Davidzon G., Green P., Maucuso M., Klos K.J., Ahlskog J.E., Hirano M., di Mauro S. Early-onset familial parkinsonism due to POLG mutations. Ann. Neurol. 2006, 59:859-862.
137. Luoma P.T., Eerola J., Ahola S., Hakonen A.H., Hellstrom O., Kivisto K.T., Tienari P.J., Suomalainen A. Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease. Neurology 2007, 69:1152-1159.
138. Hudson G., Nalls M., Evans J.R., Breen D.P., Winder-Rhodes S., Morrison K.E., Morris H.R., Williams-Gray C.H., Barker R.A., Singleton A.B., Hardy J., Wood N.E., Burn D.J., Chinnery P.F. Two-stage association study and meta-analysis of mitochondrial DNA variants in Parkinson disease. Neurology 2013, 80:2042-2048.
139. van der Walt J.M., Nicodemus K.K., Martin E.R., Scott W.K., Nance M.A., Watts R.L., Hubble J.P., Haines J.L., Koller W.C., Lyons K., Pahwa R., Stern M.B., Colcher A., Hiner B.C., Jankovic J., Ondo W.G., Allen F.H., Goetz C.G., Small G.W., Mastaglia F., Stajich J.M., McLaurin A.C., Middleton L., Scott B.L., Schmechel D.E., Pericak-Vance M.A., Vance J.M. Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. Am. J. Hum. Genet. 2003, 72:804-811.
140. Ghezzi D., Marelli C., Achilli A., Goldwurm S., Pezzoli G., Barone P., Pellecchia M.T., Stanzione P., Brusa L., Bentivoglio A.R., Bonuccelli U., Petrozzi L., Abbruzzese G., Marchese R., Cortelli P., Grimaldi D., Martinelli P., Ferrarese C., Garavaglia B., Sangiorgi S., Carelli V., Torroni A., Albanese A., Zeviani M. Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians. Eur. J. Hum. Genet. 2005, 13:748-752.
141. Huerta C., Castro M.G., Coto E., Blazquez M., Ribacoba R., Guisasola L.M., Salvador C., Martinez C., Lahoz C.H., Alvarez V. Mitochondrial DNA polymorphisms and risk of Parkinson's disease in Spanish population. J. Neurol. Sci. 2005, 236:49-54.
142. Simon D.K., Pulst S.M., Sutton J.P., Browne S.E., Beal M.F., John D.R. Familial multisystem degeneration with parkinsonism associated with the 11778 mitochondrial DNA mutation. Neurology 1999, 53:1787-1793.
143. Palacino J.J., Sagi D., Goldberg M.S., Krauss S., Motz C., Wacker M., Klose J., Shen J. Mitochondrial dysfunction and oxidative damage in parkin-deficient mice. J. Biol. Chem. 2004, 279:18614-18622.
144. Schapira A.H.V. Mitochondrial pathology in Parkinson's disease. Mt. Sinai J. Med. 2011, 78:872-881.
145. Chung K.K.K., Thomas B., Li X., Pletnikova O., Troncoso J.C., Marsh L., Dawson V.L., Dawson T.M. S-nitrosylation of parkin regulates ubiquitination and compromises parkin's protective function. Science 2004, 304:1328-1331.
146. Peash Y., Pham T., Burgess H., Middlebrooks B., Vertreken P., Zhou Y., Harding M., Bellen H., Mardon G. Drosophila parkin mutants have decreased mass and cell size and increased sensitivity to oxygen radical stress. Development 2004, 131:2183-2194.
147. Silvestri L., Caputo V., Bellacchio E., Atorino L., Dallapiccola B., Valente E.M., Casari G. Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive Parkinsonism. Hum. Mol. Genet. 2005, 14:3477-3492.
148. Petit A., Kawarai T., Paitel E., Sanjo N., Maj M., Scheid M., Chen F., Gu Y., Hasegawa H., Salehi-Rad S., Wang L., Rogaeva E., Fraser P., Robinson B., George-Hyslop P.S., Tandon A. Wild-type PINK1 prevents basal and induced neuronal apoptosis, a protective effect abrogated by Parkinson disease-related mutations. J. Biol. Chem. 2005, 280:34025-34032.
149. Gandhi S., Muqit M.M., Stanyer L., Healy D.G., Abou-Sleiman P.M., Hargreaves I., Heales S., Ganguly M., Parsons L., Lees A.J., Latchman D.S., Holton J.L., Wood N.W., Revesz T. PINK1 protein in normal human brain and Parkinson's disease. Brain 2006, 129:1720-1731.
150. Pridgeon J.W., Olzmann J.A., Chin L.S., Li L. PINK1 protects against oxidative stress by phosphorylating mitochondrial chaperone TRAP1. PLoS Biol. 2007, 5:e172.
151. Plun-Favreau H., Klupsch K., Moisoi N., Gandhi S., Kjaer S., Frith D., Harvey K., Deas E., Harvey R.J., McDonald N., Wood N.W., Martins L.M., Downward J. The mitochondrial protease HtrA2 is regulated by Parkinson's disease-associated kinase PINK1. Nat. Cell Biol. 2007, 9:1243-1252.
152. Zhou C., Huang Y., Shao Y., May J., Prou D., Perier C., Dauer W., Schon E.A., Przedborski S. The kinase domain of mitochondrial PINK1 faces the cytoplasm. Proc. Natl. Acad. Sci. U.S.A. 2008, 105:12022-12027.
153. Beilina A., van Der B.M., Ahmad R., Kesavapany S., Miller D.W., Petsko G.A., Cookson M.R. Mutations in PTEN-induced putative kinase 1 associated with recessive parkinsonism have differential effects on protein stability. Proc. Natl. Acad. Sci. U.S.A. 2005, 102:5703-5708.
154. Haque M.E., Thomas K.J., D'Souza C., Callaghan S., Kitada T., Slack R.S., Fraser P., Cookson M.R., Tandon A., Park D.S. Cytoplasmic Pink1 activity protects neurons from dopaminergic neurotoxin MPTP. Proc. Natl. Acad. Sci. U.S.A. 2008, 105:1716-1721.
155. Weihofen A., Ostaszewski B., Minami Y., Selkoe D.J. Pink1 Parkinson mutations, the Cdc37/Hsp90 chaperones and Parkin all influence the maturation or subcellular distribution of Pin. Hum. Mol. Genet. 2008, 17:602-616.
156. Yang Y., Gehrke S., Imai Y., Huang Z., Ouyang Y., Wang J.W., Yang L., Beal M.F., Vogel H., Lu B. Mitochondrial pathology and muscle and dopaminergic neuron degeneration caused by inactivation of Drosophila Pink1 is rescued by Parkin. Proc. Natl. Acad. Sci. U.S.A. 2006, 103:10793-10798.
157. De Mena L., Coto E., Sanchez-Ferrero E., Ribacoba R., Guisasola L.M., Salvador C., Blazquez M., Alvarez V. Mutational screening of the mortelin gene (HSPA9) in Parkinson's disease. J. Neural. Transm. 2009, 116:1289-1293.
158. Burbulla L.F., Schelling C., Kato H., Rapaport D., Woitalla D., Schiesling C., Schulte C., Sharma M., Illig T., Bauer P., Tung S., Nordheim A., Schols L., Riess O., Kruger R. Dissecting the role of the mitochondrial chaperone mortelin in Parkinson's disease: functional impact of disease-related variants on mitochondrial homeostasis. Hum. Mol. Genet. 2010, 19:4437-4452.
159. Perier C., Bender A., Garcia-Arunri E., Melia M.J., Bove J., Laub C., Klopstock T., Elstner M., Mounsey R.B., Teismann P., Prolla T., Andren A.L., Vila M. Accumulation of mitochondrial DNA deletions with dopaminergic neurons triggers neuroprotective mechanism. Brain 2013, 36:2369-2378.
160. DiMauro S., Schon E.A. Mitochondrial disorders in the nervous system. Annu. Rev. Neurosci. 2008, 31:91-123.
161. Ha A.D., Beck C.A., Jankovic J. Intermediate CAG repeats in Huntington's disease: analysis of COHORT. Tremor Other Hyperkinet. Mov. 2012, 2. tre-02-64-287-4.
162. Banoei M.M., Houshmand M., Panahi M.S., Shariata P., Rostami M., Manshadi M.D., Majidizadeh T. Huntington's disease and mitochondrial DNA deletions: Event or regular mechanism for mutant Huntingtin protein and CAG repeat expansion?. Cell Mol. Neurobiol. 2007, 27:867-875.
163. Gu M., Gash M.T., Mann V.M., Javoy-Agid F., Cooper J.M., Schapira A.H. Mitochondrial defect in Huntington's disease caudate nucleus. Ann. Neurol. 1996, 39:385-389.
164. Browne S.E., Bowling A.C., MacGarvey U., Baik M.J., Berger S.C., Muqit M.M., Bird E.D., Beal M.F. Oxidative damage and metabolic dysfunction in Huntington's disease: selective vulnerability of the basal ganglia. Ann. Neurol. 1997, 41:646-653.
165. Polidori M.C., Mecocci P., Browne S.E., Senin U., Beal M.F. Oxidative damage to mitochondrial DNA in Huntington's disease parietal cortex. Neurosci. Lett. 1999, 272:53-56.
166. Sadagurski M., Cheng Z., Rozzo A., Palazzolo I., Kelley G.R., Dong X., Krainc D., White M.F. IRS2 increases mitochondrial dysfunction and oxidative stress in a mouse model of Huntington disease. J. Clin. Invest. 2011, 121:4070-4081.
167. Lin J., Handschin C., Spiegelman B.M. Metabolic control through the PGC-1 family of transcription coactivators. Cell Metab. 2005, 1:361-370.
168. Puigserver P. Tissue-specific regulation of metabolic pathways through the transcriptional coactivator PGC1-alpha. Int. J. Obes. 2005, 29:S5-S9.
169. Cui L., Jeong H., Borovecki F., Parkhurst C.N., Tanese N., Krainc D. Transcriptional repression of PGC-1alpha by mutant huntingtin leads to mitochondrial dysfunction and neurodegeneration. Cell 2006, 127:59-69.
170. Greenamyre J.T. Huntington's disease - making connections. N. Engl. J. Med. 2007, 356:518-520.
171. Inagaki R., Tagawa K., Qi M.L., Enokido Y., Ito H., Tamura T., Shimizu S., Oyanagi K., Arai N., Kanazawa I., Wanker E.E., Okazawa H. Omi/HtrA2 is relevant to the selective vulnerability of striatal neurons in Huntington's disease. Eur. J. Neurosci. 2008, 28:30-40.
172. Johri A., Starkov A.A., Chandra A., Hennessey T., Sharma A., Orobello S., Squitieri F., Yang L., Beal M.F. Truncated peroxisome proliferator-activated receptor-gamma coactivator 1alpha splice variant is severely altered in Huntington's disease. Neurodegener. Dis. 2011, 8:496-503.
173. Taherzadeh-Fard E., Saft C., Andrich J., Wieczorek S., Arning L. PGC-1alpha as modifier of onset age in Huntington disease. Mol. Neurodegener. 2009, 4:10.
174. Weydt P., Soyal S.M., Gellera C., Didonato S., Weidinger C., Oberkofler H., Landwehrmeyer G.B., Patsch W. The gene coding for PGC-1alpha modifies age at onset in Huntington's disease. Mol. Neurodegener. 2009, 4:3.
175. Rodgers J.T., Lerin C., Haas W., Gygi S.P., Spiegelman B.M., Puigserver P. Nutrient control of glucose homeostasis through a complex of PGC-1alpha and SIRT1. Nature 2005, 434:113-118.
176. Wu Z., Huang X., Feng Y., Handschin C., Gullicksen P.S., Bare O., Labow M., Spiegelman B., Stevenson S.C. Transducer of regulated CREB-binding proteins (TORCs) induce PGC-1alpha transcription and mitochondrial biogenesis in muscle cells. Proc. Natl. Acad. Sci. U.S.A. 2006, 103:14379-14384.
177. McConoughey S.J., Basso M., Niatsetskaya Z.V., Sleiman S.F., Smirnova N.A., Langley B.C., Mahishi L., Cooper A.J., Antonyak M.A., Cerione R.A., Li B., Starkov A., Chaturvedi R.K., Beal M.F., Coppola G., Geschwind D.H., Ryu H., Xia L., Iismaa S.E., Pallos J., Pasternack R., Hils M., Fan J., Raymond L.A., Marsh J.L., Thompson L.M., Ratan R.R. Inhibition of transglutaminase 2 mitigates transcriptional dysregulation in models of Huntington disease. EMBO Mol. Med. 2010, 2:349-370.
178. Arning L., Haghikia A., Taharzadeh-Ford E., Saft C., Andrich J., Paula B., Hoxtermann S., Wieczorek S., Akkad D.A., Perrech M., Gold R., Epplen J.T., Chan A. Mitochondrial haplogroup H correlates with ATP levels and age at onset in Huntington disease. J. Mol. Med. 2010, 88:431-436.
179. Menzies F.M., Ince P.G., Shaw P.J. Mitochondrial involvement in amyotrophic lateral sclerosis. Neurochem. Int. 2002, 40:543-551.
180. Comi G.P., Bordoni A., Salani S., Franeschina L., Sciacco M., Prelle A., Fortunato F., Zeviani M., Napoli L., Bresolin N., Moggio M., Ausenda C.D., Taanman J.W., Scarlato G. Cytochrome c oxidase subunit I microdeletion in a paitent with motor neuron disease. Ann. Neurol. 1998, 43:110-116.
181. Borthwick G.M., Taylor R.W., Walls T.J., Tonska K., Taylor G.A., Shaw P.J., Ince P.G., Turnbull D.M. Motor neuron disease in a patient with a mitochondrial tRNAIle mutation. Ann. Neurol. 2006, 59:570-574.
182. Corral-Debrinski M., Horton T., Lott M.T., Shoffner J.M., Beal M.F., Wallace D.C. Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age. Nat. Genet. 1992, 2:324-329.
183. Mawrin C., Kirches E., Krause G., Wiedemann F.R., Vorwerk C.K., Bogerts B., Schildhaus H.U., Dietzmann K., Schneider-Stock R. Single-cell analysis of mtDNA levels in sporadic amyotrophic lateral sclerosis. Neuroreport 2004, 15:939-943.
184. Dhaliwal G.K., Grewal R.P. Mitochondrial DNA deletion mutation levels are elevated in ALS brains. Neuroreport 2000, 11:2507-2509.
185. Ro L.S., Lai S.L., Chen C.M., Chen S.T. Deleted 4977-bp mitochondrial DNA mutation is associated with sporadic amyotrophic lateral sclerosis: a hospital-based case-control study. Muscle Nerve 2003, 28:737-743.
186. Appel S.H. Is ALS a systemic disorder? Evidence from muscle mitochondria. Exp. Neurol. 2006, 198:1-3.
187. Crugnola V., Lamperti C., Lucchini V., Ronchi D., Peverelli L., Prelle A., Sciacco M., Bordoni A., Fassone E., Fortunato F., Corti S., Silani V., Bresolin N., Di Mauro S., Comi G.P., Moggio M. Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosis. Arch. Neurol. 2010, 67:849-854.
188. Rosen D.R., Siddique T., Patterson D., Figlewicz D.A., Sapp P., Hentati A., Donaldson D., Goto J., O'Regan J.P., Deng H.X., Rahmani Z., Krizus A., McKenna-Yasek D., Cayabyab A., Gaston S.M., Berger R., Tanzi R.E., Halperin J.J., Herzfeldt B., van den Bergh R., Hung W.Y., Bird T., Deng G., Mulder D.W., Smyth C., Laing N.G., Soriano E., Pericak-Vance M.A., Haines J., Rouleau G.A., Gusella J.S., Horvitz H.R., Brown R.H. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993, 362:59-62.
189. Saeed M., Yang Y., Deng H.X., Hung W.Y., Siddique N., Dollefave L., Gellera C., Andresan P.M., Siddiuqe T. Age and founder effect of SOD1 A4V mutation causing ALS. Neurology 2009, 72:1634-1639.
190. Liu J., Lillo C., Jonsson P.A., Vande Velde C., Ward C.M., Miller T.M., Subramanium J.R., Rothstein J.D., Marklund S., Andersen P.M., Brannstron T., Gredal O., Wong P.C., Williams D.S., Cleveland D.W. Toxicity of familial ALS-linked SOD1 mutants from selective recruitment to spiral mitochondria. Neuron 2004, 43:5-17.
191. Brenig B., Beck J., Schutz E. Shotgun metagenomics of biological stains using ultra-deep DNA sequencing. Forensic Sci. Int. Genet. 2010, 4:228-231.
192. Chou Y.F., Huang R.F. Mitochondrial DNA deletions of blood lymphocytes as genetic markers of low folate-related mitochondrial genotoxicity in peripheral tissues. Eur. J. Nutr. 2009, 48:429-436.
193. Kronenberg G., Gertz K., Overall R.W., Harms C., Klein J., Page M.M., Stuart J.A., Endres M. Folate deficiency increases mtDNA and D-1 mtDNA deletion in aged brain of mice lacking uracil-DNA glycosylase. Exp. Neurol. 2011, 228:253-258.
194. Konstantinidon V., Covas M.I., Sola R., Fito M. Up-to date knowledge on the in vivo transcriptomic effect of the Mediterranean diet in humans. Mol. Nutr. Food Res. 2013, 57:772-783.
195. Larsson N.G. Somatic mitochondrial DNA mutations in mammalian ageing. Annu. Rev. Biochem. 2010, 79:683-710.
196. Perier C., Vila M. Mitochondrial biology and Parkinson's disease. Cold Spring Harb. Perspect Med. 2012, 4:a009332.
197. Brown M.D., Shoffner J.M., Kim Y.L., Jun A.S., Graham B.H., Cabell M.F., Gurley D.S., Wallace D.C. Mitochondrial DNA sequence analysis of four Alzheimer's and Parkinson's disease patients. Am. J. Med. Genet. 1996, 61:283-289.
198. Khusnutdinova E., Gilyazova I., Ruiz-Pesini E., Derbeneva O., Khusainova R., Khidiyatova I., Magzhanov R., Wallace D.C. A mitochondrial etiology of neurodegenerative diseases: evidence from Parkinson's disease. Ann. N.Y. Acad. Sci. 2008, 1147:1-20.
199. Takasaki S. Mitochondrial SNPs associate with Japanese centenarians, Alzheimer's patients, and Parkinson's patients. Comput. Biol. Chem. 2008, 32:332-337.
200. Hamblet N.S., Ragland B., Ali M., Conyers B., Castora F.J. Mutations in mitochondrial-encoded cytochrome c oxidase subunits I, II, and III genes detected in Alzheimer's disease using single-strand conformational polymorphism. Electrophoresis 2006, 27:398-408.
201. Kosel S., Grasbon-Frodl E.M., Mautsch U., Egensperger R., von Eitzen U., Frishman D., Hofmann S., Gerbitz K.D., Mehraein P., Graeber M.B. Novel mutations of mitochondrial complex I in pathologically proven Parkinson disease. Neurogenetics 1998, 1:197-1204.
202. Piccoli C., Ripoli M., Quarato G., Scrima R., D'Aprile A., Boffoli D., Margaglione M., Criscuolo C., De Michele G., Sardanelli A., Papa S., Capitanio N. Coexistence of mutations in PINK1 and mitochondrial DNA in early onset parkinsonism. J. Med. Genet. 2008, 45:596-602.
203. de Coo I.F., Renier W.O., Ruitenbeek W., Ter Laak H.J., Bakker M., Schagger H., Van Oost B.A., Smeets H.J. A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome. Ann. Neurol. 1999, 45:130-133.