Mutation in mitochondrial DNA as a cause of presbyacusis

Audiology and Neuro-Otology

Volumn 9, Issue 1, 2004, Pages 23-33

  Pickles, James O ^a  

^a UNIVERSITY OF QUEENSLAND   (Australia)

Author keywords

Hearing loss; Mitochondria; Mitochondrial DNA; Presbyacusis

Indexed keywords

AMINOGLYCOSIDE ANTIBIOTIC AGENT; ANTIOXIDANT; CISPLATIN; CYCLOSPORIN A; GENTAMICIN; LIPID; MITOCHONDRIAL DNA; MITOCHONDRIAL PROTEIN; OXYGEN RADICAL;

APOPTOSIS; ATAXIA; CELL AGING; COCHLEA; DEGRADATION; DNA DAMAGE; DNA REPAIR; GENE MUTATION; HEARING IMPAIRMENT; HUMAN; INNER EAR; MELAS SYNDROME; MERRF SYNDROME; MITOCHONDRION; MYOCLONUS EPILEPSY; NONHUMAN; OTOTOXICITY; OXIDATIVE PHOSPHORYLATION; POINT MUTATION; PRESBYACUSIS; PRIORITY JOURNAL; REVIEW;

AGING; COCHLEA; DNA, MITOCHONDRIAL; HUMANS; MITOCHONDRIA; MODELS, GENETIC; MUTATION; OXIDATIVE PHOSPHORYLATION; PENETRANCE; PRESBYCUSIS; REACTIVE OXYGEN SPECIES;

EID: 0346749728     PISSN: 14203030     EISSN: None     Source Type: Journal    
DOI: 10.1159/000074184     Document Type: Review

References (82)

1. Ashmore J: Biophysics of the cochlea - Biomechanics and ion channelopathies. Br Med Bull 2002;63:59-72.
2. Bai U, Seidman MD: A specific mitochondrial DNA deletion (mtDNA4977) is identified in a pedigree of a family with hearing loss. Hear Res 2001;154:73-80.
3. Bai U, Seidman MD, Hinojosa R, Quirk WS: Mitochondrial DNA deletions associated with aging and possibly presbycusis: A human archival temporal bone study. Am J Otol 1997;18:449-453.
4. Van Campen LE, Murphy WJ, Franks JR, Mathias PI, Toraason MA: Oxidative DNA damage is associated with intense noise exposure in the rat. Hear Res 2002;164:29-38.
5. Carlsson LM, Jonsson J, Edlund T, Marklund SL: Mice lacking extracellular superoxide dismutase are more sensitive to hyperoxia. Proc Natl Acad Sci USA 1995;92:6264-6268.
6. Chen D, Cao G, Hastings T, Feng Y, Pei W, O'Horo C, Chen J: Age-dependent decline of DNA repair activity for oxidative lesions in rat brain mitochondria. J Neurochem 2002;81:1273-1284.
7. Chinnery PF, Elliott C, Green GR, Rees A, Coulthard A, Turnbull DM, Griffiths TD: The spectrum of hearing loss due to mitochondrial DNA defects. Brain 2000;123:82-92.
8. Corral-Debrinski M, Horton T, Lott MT, Shoffner JM, Beal MF, Wallace DC: Mitochondrial DNA deletions in human brain: Regional variability and increase with advanced age. Nat Genet 1992;2:324-329.
9. Dehne N, Rauen U, de Groot H, Lautermann J: Involvement of the mitochondrial permeability transition in gentamicin ototoxicity. Hear Res 2002;169:47-55.
10. Esposito LA, Melov S, Panov A, Cottrell BA, Wallace DC: Mitochondrial disease in mouse results in increased oxidative stress. Proc Natl Acad Sci USA 1999;96:4820-4825.
11. Fischel-Ghodsian N: Mitochondrial RNA processing and translation: Link between mitochondrial mutations and hearing loss? Mol Genet Metab 1998;65:97-104.
12. Fischel-Ghodsian N: Homoplasmic mitochondrial DNA diseases as the paradigm to understand the tissue specificity and variable clinical severity of mitochondrial disorders. Mol Genet Metab 2000;71:93-99.
13. Fischel-Ghodsian N, Bykhovskaya Y, Taylor K, Kahen T, Cantor R, Ehrenman K, Smith R, Keithley E: Temporal bone analysis of patients with presbycusis reveals high frequency of mitochondrial mutations. Hear Res 1997;110:147-154.
14. Forge A, Li L: Apoptotic death of hair cells in mammalian vestibular sensory epithelia. Hear Res 2000;139:97-115.
15. Goto Y: Clinical and molecular studies of mitochondrial disease. J Inherit Metab Dis 2001;24:181-188.
16. Graziewicz MA, Day BJ, Copeland WC: The mitochondrial DNA polymerase as a target of oxidative damage. Nucleic Acids Res 2002;30:2817-2824.
17. de Grey DNJ: The reductive hotspot hypothesis of mammalian aging. Eur J Biochem 2002;269:2003-2009.
18. Gross NJ, Getz GS, Rabinowitz M: Apparent turnover of mitochondrial deoxyribonucleic acid and mitochondrial phospholipids in the tissues of the rat. J Biol Chem 1969;244:1552-1562.
19. Hamilton ML, Van Remmen H, Drake JA, Yang H, Guo ZM, Kewitt K, Walter CA, Richardson A: Does oxidative damage to DNA increase with age? Proc Natl Acad Sci USA 2001;98:10469-10474.
20. t'Hart LM, Jansen JJ, Lemkes HH, de Knijff P, Maassen JA: Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon aging. Hum Mutat 1996;7:193-197.
21. Hofhaus G, Berneburg M, Wulfert M, Gattermann N: Live now - Pay by ageing: High performance mitochondrial activity in youth and its age-related side effects. Exp Physiol 2003;88:167-174.
22. Hu BH, Henderson D, Nicotera TM: Involvement of apoptosis in progression of cochlear lesion following exposure to intense noise. Hear Res 2002;166:62-71.
23. Hutchin TP, Cortopassi GA: Mitochondrial defects and hearing loss. Cell Mol Life Sci 2000;57:1927-1937.
24. Hutchin T, Haworth I, Higashi K, Fischel-Ghodsian N, Stoneking M, Saha N, Arnos C, Cortopassi G: A molecular basis for human hypersensitivity to aminoglycoside antibiotics. Nucleic Acids Res 1993;21:4174-4179.
25. Johnson KR, Zheng QY, Bykhovskaya Y, Spirina O, Fischel-Ghodsian N: A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice. Nat Genet 2001;27:191-194.
26. Keithley EM, Harris B, Desai K, Linthicum F, Fischel-Ghodsian N: Mitochondrial cytochrome oxidase immunolabeling in aged human temporal bones. Hear Res 2001;157:93-99.
27. Kopke RD, Liu W, Gabaizadeh R, Jacono A, Feghali J, Spray D, Garcia P, Steinman H, Malgrange B, Ruben RJ, Rybak L, Van de Water TR: Use of organotypic cultures of Corti's organ to study the protective effects of antioxidant molecules on cisplatin-induced damage of auditory hair cells. Am J Otol 1997;18:559-571.
28. Kunkel TA, Loeb LA: Fidelity of mammalian DNA polymerases. Science 1981;213:765-767.
29. Kurland CG, Andersson SG: Origin and evolution of the mitochondrial proteome. Microbiol Mol Biol Rev 2000;64:786-820.
30. Legros F, Lombes A, Franchon P, Rojo M: Mitochondrial fusion in human cells is efficient, requires the inner membrane potential, and is mediated by lipofusins. Mol Biol Cell 2002;13:4343-4354.
31. Lewis S, Hutchison W, Di Nezza L, Thyagarajan D, Marotta R, Dahl H: Refinement of the adPEO linked locus on Chr10 and analysis of MRS4 and three other candidate genes. FEBS Lett 2001;500:183-185.
32. Lindsay JR, Hinojosa R: Histopathologic features of the inner ear associated with Kearns-Sayre syndrome. Arch Otolaryngol 1976;102:747-752.
33. Lopez-Gonzalez MA, Delgado F, Lucas M: Aminoglycosides activate oxygen metabolites production in the cochlea of mature and developing rats. Hear Res 1999;136:165-168.
34. Lopez-Gonzalez MA, Guerrero JM, Torronteras R, Osuna C, Delgado F: Ototoxicity caused by aminoglycosides is ameliorated by melatonin without interfering with the antibiotic capacity of the drugs. J Pineal Res 2000;28:26-33.
35. Man PY, Turnbull DM, Chinnery PF: Leber hereditary optic neuropathy. J Med Genet 2002;39:162-169.
36. Matsui JI, Ogilvie JM, Warchol ME: Inhibition of caspases prevents ototoxic and ongoing hair cell death. J Neurosci 2002;22:1218-1227.
37. Mattson MP, Liu D: Energetics and oxidative stress in synaptic plasticity and neurodegenerative disorders. Neuromol Med 2002;2:215-231.
38. Melov S, Coskun P, Patel M, Tuinstra R, Cottrell B, Jun AS, Zastawny TH, Dizdaroglu M, Goodman SI, Huang TT, Miziorko H, Epstein CJ, Wallace DC: Mitochondrial disease in superoxide dismutase 2 mutant mice. Proc Natl Acad Sci USA 1999a;96:846-851.
39. Melov S, Schneider JA, Coskun PE, Bennett DA, Wallace DC: Mitochondrial DNA rearrangements in aging human brain and in situ PCR of mtDNA. Neurobiol Aging 1999b;20:565-571.
40. Mott JL, Zhang D, Stevens M, Chang S, Denniger G, Zassenhaus HP: Oxidative stress is not an obligate mediator of disease provoked by mitochondrial DNA mutations. Mutat Res 2001;74:35-45.
41. Nadol JB Jr, Merchant SN: Histopathology and molecular genetics of hearing loss in the human. Int J Pediatr Otorhinolaryngol 2001;61:1-15.
42. Nakagawa T, Kim TS, Murai N, Endo T, Iguchi F, Tateya I, Yamamoto N, Naito Y, Ito J: A novel technique for inducing local inner ear damage. Hear Res 2003;176:122-127.
43. Nekhaeva E, Bodyak ND, Kraytsberg Y, McGrath SB, Van Orsouw NJ, Pluzhnikov A, Wei JY, Vijg J, Khrapko K: Clonally expanded mtDNA point mutations are abundant in individual cells of human tissues. Proc Natl Acad Sci USA 2002;99:5521-5526.
44. Nomura K, Imai H, Koumura T, Kobayashi T, Nakagawa Y: Mitochondrial phospholipid hydroperoxide glutathione peroxidase inhibits the release of cytochrome c from mitochondria by suppressing the peroxidation of cardiolipin in hypoglycaemia-induced apoptosis. Biochem J 2000;351:183-193.
45. Ohlemiller KK, McFadden SL, Ding DL, Lear PM, Ho YS: Targeted mutation of the gene for cellular glutathione peroxidase (Gpx1) increases noise-induced hearing loss in mice. J Assoc Res Otolaryngol 2000;1:243-354.
46. Olsson C, Johnsen E, Nilsson M, Wilander E, Syvanen AC, Lagerstrom-Fermer M: The level of the mitochondrial mutation A3243G decreases upon ageing in epithelial cells from individuals with diabetes and deafness. Eur J Hum Genet 2001;9:917-921.
47. Petrosillo G, Ruggiero FM, Di Venosa N, Paradies G: Decreased complex III activity in mitochondria isolated from rat heart subjected to ischemia and reperfusion: Role of reactive oxygen species and cardiolipin. FASEB J 2003;17:714-716.
48. Pickles JO: An Introduction to the Physiology of Hearing. London, Academic Press, 1988.
49. Porteous WK, James AM, Sheard PW, Porteous CM, Packer MA, Hyslop SJ, Melton JV, Pang CY, Wei YH, Murphy MP: Bioenergetic consequences of accumulating the common 4,977-bp mitochondrial DNA deletion. Eur J Biochem 1998;257:192-201.
50. Prezant TR, Agapian JV, Bohlman MC, Bu X, Oztas S, Qiu WQ, Arnos KS, Cortopassi GA, Jaber L, Rotter JI, et al: Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet 1993;4:289-294.
51. Reaume AG, Elliott JL, Hoffman EK, Kowall NW, Ferrante RJ, Siwek DF, Wilcox HM, Flood DG, Beal MF, Brown RH Jr, Scott RW, Snider WD: Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury. Nat Genet 1996;13:43-47.
52. Richter C, Park JW, Ames BN: Normal oxidative damage to mitochondrial and nuclear DNA is extensive. Proc Natl Acad Sci USA 1988;85:6465-6467.
53. Robertson D: Horseradish peroxidase injection of physiologically characterised afferent and efferent neurones in the guinea pig spiral ganglion. Hear Res 1984;15:113-121.
54. Rossignol R, Faustin B, Rocher C, Malgat M, Mazat J-P, Letellier T: Mitochondrial threshold effects. Biochem J 2003;370:751-762.
55. Salvioli S, Bonafe M, Capri M, Monti D, Franceschi C: Mitochondria, aging and longevity - A new perspective. FEBS Lett 2001;492:9-13.
56. Santos JH, Hunakova L, Chen Y, Bortner C, van Houten B: Cell sorting experiments link persistent mitochondrial DNA damage with loss of mitochondrial membrane potential and apoptotic cell death. J Biol Chem 2003;278:1728-1734.
57. Schon EA: Mitochondrial genetics and disease. Trends Biochem Sci 2000;25:555-560.
58. Schon EA, Rizzuto R, Moraes CT, Nakase H, Zeviani M, Di Mauro S: A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA. Science 1989;244:346-349.
59. Seidman MD: Effects of dietary restriction and antioxidants on presbyacusis. Laryngoscope 2000;110:727-738.
60. Seidman MD, Ahmad N, Bai U: Molecular mechanisms of age-related hearing loss. Ageing Res Revs 2002;1:331-343.
61. Seidman MD, Khan MJ, Bai U, Shirwany N, Quirk WS: Biologic activity of mitochondrial metabolites on aging and age-related hearing loss. Am J Otol 2000;21:161-167.
62. Sha SH, Schacht J: Stimulation of free radical formation by aminoglycoside antibiotics. Hear Res 1999;128:112-118.
63. Sha SH, Schacht J: Antioxidants attenuate gentamicin-induced free radical formation in vitro and ototoxicity in vivo: D-Methionine is a potential protectant. Hear Res 2000;142:34-40.
64. Sha SH, Taylor R, Forge A, Schacht J: Differential vulnerability of basal and apical hair cells is based on intrinsic susceptibility to free radicals. Hear Res 2001;155:1-8.
65. Shadel GS, Clayton DA: Mitochondrial DNA maintenance in vertebrates. Annu Rev Biochem 1997;66:409-435.
66. Simonetti S, Chen X, Di Mauro S, Schon EA: Accumulation of deletions in human mitochondrial DNA during normal aging: Analysis by quantitative PCR. Biochim Biophys Acta 1992;1180:113-122.
67. Skulachev VP: Mitochondria in the programmed death phenomena - A principle of biology: 'It is better to die than to be wrong'. IUBMB Life 2000;49:365-373.
68. Skulachev VP: The programmed death phenomena, aging, and the Samurai law of biology. Exp Gerontol 2001;36:995-1024.
69. Skulachev VP: Programmed death phenomena: From organelle to organism. Ann NY Acad Sci 2002;959:214-237.
70. Sue CM, Lipsett LJ, Crimmins DS, Tsang CS, Boyages SC, Presgrave CM, Gibson WP, Byrne E, Morris JG: Cochlear origin of hearing loss in MELAS syndrome. Ann Neurol 1998;43:350-359.
71. Swerdlow RH: Mitochondrial DNA-related mitochondrial dysfunction in neurodegenerative diseases. Arch Pathol Lab Med 2002;126:271-280.
72. Tengan CH, Gabbai AA, Shanske S, Zeviani M, Moraes CT: Oxidative phosphorylation dysfunction does not increase the rate of accumulation of age-related mtDNA deletions in skeletal muscle. Mutat Res 1997;379:1-11.
73. Tully A, Levin BA: Human mitochondrial genetics. Biotechnol Genet Eng Rev 2000;17:147-177.
74. Ueda N, Oshima T, Ikeda K, Abe K, Aoki M, Takasaka T: Mitochondrial DNA deletion is a predisposing cause for sensorineural hearing loss. Laryngoscope 1998;108:580-584.
75. Wallace DC: A mitochondrial paradigm for degenerative diseases and ageing. Novartis Found Symp 2001;235:247-263.
76. Wei YH, Kao SH, Lee HC: Simultaneous increase of mitochondrial DNA deletions and lipid peroxidation in human aging. Ann NY Acad Sci 1996;786:24-43.
77. Wei YH, Lu CY, Wei CY, Ma YS, Lee HC: Oxidative stress in human aging and mitochondrial disease - Consequences of defective mitochondrial respiration and impaired antioxidant enzyme system. Chin J Physiol 2001;44:1-11.
78. Wiesner RJ, Hornung TV, Garman JD, Clayton DA, O'Gorman E, Wallimann T: Stimulation of mitochondrial gene expression and proliferation of mitochondria following impairment of cellular energy transfer by inhibition of the phosphocreatine circuit in rat hearts. J Bioenerg Biomembr 1999;31:559-567.
79. von Wurmb-Schwark N, Higuchi R, Fenech AP, Elfstroem C, Meissner C, Oehmichen M, Cortopassi GA: Quantification of human mitochondrial DNA in a real time PCR. Forensic Sci Int 2002;126:34-39.
80. Zhang X, Han D, Ding D, Dai P, Yang W, Jiang S, Salvi RJ: Deletions are easily detectable in cochlear mitochondrial DNA of Cu/Zn superoxide dismutase gene knockout mice. Chin Med J 2002;115:258-263.
81. Zheng Y, Ikeda K, Nakamura M, Takasaka T: Endonuclease cleavage of DNA in the aged cochlea of Mongolian gerbil. Hear Res 1998;126:11-18.
82. Zwirner P, Wilichowski E: Progressive sensorineural hearing loss in children with mitochondrial encephalomyopathies. Laryngoscope 2001;111:515-521.