The role of mitochondrial DNA mutations in hearing loss

Biochemical Genetics

Volumn 51, Issue 7-8, 2013, Pages 588-602

  Ding, Yu ^a   Leng, Jianhang ^a   Fan, Fan ^b   Xia, Bohou ^c   Xu, Pan ^d  

^a NANJING MEDICAL UNIVERSITY   (China)

^b ZHEJIANG CANCER HOSPITAL   (China)

^c HUNAN UNIVERSITY OF CHINESE MEDICINE   (China)

^d Center for Experimental Animals   (China)

Author keywords

Deafness; Mitochondria; Mitochondrial dysfunction; Mutation; tRNA metabolism

Indexed keywords

MITOCHONDRIAL DNA; RNA 12S; TRANSFER RNA;

ALLELE; ARTICLE; CLINICAL FEATURE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HEARING IMPAIRMENT; HETEROPLASMY; HOMOPLASY; HUMAN; MITOCHONDRIAL GENOME; MOLECULAR MECHANICS; OTOTOXICITY;

BASE SEQUENCE; DNA, MITOCHONDRIAL; GENE DELETION; GENOME, MITOCHONDRIAL; HEARING LOSS; HUMANS; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEIC ACID CONFORMATION; PHENOTYPE; POINT MUTATION; RNA, RIBOSOMAL; RNA, TRANSFER;

EID: 84880603512     PISSN: 00062928     EISSN: 15734927     Source Type: Journal    
DOI: 10.1007/s10528-013-9589-6     Document Type: Article

References (89)

1. Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Staden R, Young IG (1981) Sequence and organization of the human mitochondrial genome. Nature 290:457-465
2. Attardi G, Schatz G (1988) Biogenesis of mitochondria. Annu Rev Cell Biol 4:289-333
3. Bai U, Seidman MD (2001) A specific mitochondrial DNA deletion (mtDNA4977) is identified in a pedigree of a family with hearing loss. Hear Res 154:73-80
4. Ballinger SW, Shoffner JM, Hedaya EV, Trounce I, Polak MA, Koontz DA, Wallace DC (1992) Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion. Nat Genet 1:11-15
5. Björk GR (1995) Biosynthesis and function of modified nucleotides. In: Söll D, RajBhandary UL (eds) tRNA: structure, biosynthesis and function. ASM, Washington, DC, pp 165-206
6. Brown SD, Hardisty-Hughes RE, Mburu P (2008) Quiet as a mouse: dissecting the molecular and genetic basis of hearing. Nat Rev Genet 9:277-290
7. Chamber HF, Sande MA (1996) The aminoglycosides. In: Hardman JG, Limbird LE, Molino PB, Ruddon RW, Gilman AG (eds) The pharmacological basis of therapeutic, 9th edn. McGraw-Hill, New York, pp 1103-1221
8. Chapiro E, Feldmann D, Denoyelle F, Sternberg D, Jardel C, Eliot MM, Bouccara D, Weil D, Garabédian EN, Couderc R, Petit C, Marlin S (2002) Two large French pedigrees with nonsyndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor. Eur J Hum Genet 10:851-856
9. Chen J, Yang L, Yang A, Zhu Y, Zhao J, Sun D, Tao Z, Tang X, Wang J, Wang X, Lan J, Li W, Wu F, Yuan Q, Feng J, Wu C, Liao Z, Li Z, Greinwald JH, Lu J, Guan MX (2007) Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees. Gene 401:4-11
10. (Ser(UCN)) gene in three maternal Chinese pedigrees with sensorineural hearing loss. Mitochondrion 8:285-292
11. Chen T, He J, Shen L, Fang H, Nie H, Jin T, Wei X, Xin Y, Jiang Y, Li H, Chen G, Lu J, Bai Y (2011) The mitochondrial DNA 4,977-bp deletion and its implication in copy number alteration in colorectal cancer. BMC Med Genet 12:8
12. Leu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes. J Biol Chem 275:19198-19209
13. Davies J, Davis BD (1968) Misreading of ribonucleic acid code words induced by aminoglycoside antibiotics. J Biol Chem 243:3312-3316
14. Ser(UCN) gene. J Med Genet 39:e82
15. DiMauro S, Schon EA (2001) Mitochondrial DNA mutations in human disease. Am J Med Genet 106:18-26
16. Dutka S, Meinnel T, Lazennec C, Mechulam Y, Blanquet S (1993) Role of the 1-72 base pair in tRNAs for the activity of Escherichia coli peptidyl-tRNA hydrolase. Nucleic Acid Res 17:4025-4030
17. El Meziane A, Lehtinen SK, Hance N, Nijtmans LGJ, Dunbar D, Holt IJ, Jacobs HT (1998) A tRNA suppressor mutation in human mitochondria. Nat Genet 18:350-353
18. Fischel-Ghodsian N (1999) Mitochondrial deafness mutations reviewed. Hum Mutat 13:261-270
19. Fischel-Ghodsian N, Prezant TR, Fournier P, Stewart IA, Maw M (1995) Mitochondrial mutation associated with nonsyndromic deafness. Am J Otolaryngol 16:403-408
20. Fischel-Ghodsian N, Kopke RD, Ge X (2004) Mitochondrial dysfunction in hearing loss. Mitochondrion 4:675-694
21. Florentz C, Sohm B, Tryoen-Toth P, Putz J, Sissler M (2003) Human mitochondrial tRNAs in health and disease. Cell Mol Life Sci 60:1356-1375
22. Fourmy D, Recht MI, Blanchard SC, Puglisi JD (1996) Structure of the A-site of Escherichia coli 16S ribosomal RNA complexed with an aminoglycoside antibiotic. Science 274:1367-1371
23. Friedman RA, Bykhovskaya Y, Sue CM, DiMauro S, Bradley R, Fallis-Cunningham R, Paradies N, Pensak ML, Smith RJ, Groden J, Li XC, Fischel-Ghodsian N (1999) Maternally inherited nonsyndromic hearing loss. Am J Med Genet 84:369-372
24. Gratton MA, Vázquez AE (2003) Age-related hearing loss: current research. Curr Opin Otolaryngol Head Neck Surg 11:367-371
25. Guan MX (2005) Prevalence of mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity. Volta Rev 105:211-227
26. Guan MX (2011) Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity. Mitochondrion 11:237-245
27. Ser(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression. Mol Cell Biol 18:5868-5879
28. Guan MX, Fischel-Ghodsian N, Attardi G (2001) Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation. Hum Mol Genet 10:573-580
29. Gutiérrez Cortés N, Pertuiset C, Dumon E, Börlin M, Hebert-Chatelain E, Pierron D, Feldmann D, Jonard L, Marlin S, Letellier T, Rocher C (2012) Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss. Hum Mutat 33:681-689
30. Hamasaki K, Rando RR (1987) Specific binding of aminoglycosides to a human rRNA construct based on a DNA polymorphism, which causes aminoglycoside-induced deafness. Biochemistry 36:12323-12328
31. Ser(UCN) gene in a family with nonsyndromic sensorineural hearing impairment. J Med Genet 37:692-694
32. Ishikawa K, Tamagawa Y, Takahashi K, Kimura H, Kusakari J, Hara A, Ichimura K (2002) Nonsyndromic hearing loss caused by a mitochondrial T7511C mutation. Laryngoscope 112:1494-1499
33. Jacobs HT, Hutchin TP, Kappi T, Gillies G, Minkkinen K, Walker J, Thompson K, Rovio AT, Carella M, Melchionda S, Zelante L, Gasparini P, Pyykko I, Shah ZH, Zeviani M, Mueller RF (2005) Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment. Eur J Hum Genet 13:26-33
34. Leu(UUR) mutation induces mitochondrial dysfunction and variable disease expression without dominant negative acting translational defects in complex IV subunits at UUR codons. Hum Mol Genet 16:2472-2481
35. Leu(UUR) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes. Mol Cell Biol 12:480-490
36. Ser(UCN) in sensorineural hearing loss. Clin Genet 73:50-54
37. Lalwani AK, Gürtler N (2008) Sensorineural hearing loss, the aging inner ear, and hereditary hearing impairment. Current diagnosis and treatment in otolaryngology, head and neck surgery, 2nd edn. McGraw-Hill, New York, pp 683-704
38. Lévêque M, Marlin S, Jonard L, Procaccio V, Reynier P, Amati-Bonneau P, Baule S, Pierron D, Lacombe D, Duriez F, Francannet C, Mom T, Journel H, Catros H, Drouin-Garraud V, Obstoy MF, Dollfus H, Eliot MM, Faivre L, Duvillard C, Couderc R, Garabedian EN, Petit C, Feldmann D, Denoyelle F (2007) Whole mitochondrial genome screening in maternally inherited nonsyndromic hearing impairment using a microarray resequencing mitochondrial DNA chip. Eur J Hum Genet 15:1145-1155
39. (Ile) reduce precursor 3′ end processing efficiency in vitro. Nucleic Acids Res 31:1904-1912
40. Leu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetes. Mol Cell Biol 30:2147-2154
41. Ser(UCN) T7511C mutation associated with nonsyndromic deafness. Nucleic Acids Res 32:867-877
42. Ser(UCN) 7511C mutation in a Japanese family. Biochem Biophys Res Commun 328:32-37
43. Ser(UCN) A7445G mutation in osteosarcoma cell cybrids. Biochem Biophys Res Commun 328:491-498
44. Lu J, Li Z, Zhu Y, Yang A, Li R, Zheng J, Cai Q, Peng G, Zheng W, Tang X, Chen B, Chen J, Liao Z, Yang L, Li Y, You J, Ding Y, Yu H, Wang J, Sun D, Zhao J, Xue L, Wang J, Guan MX (2010a) Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss. Mitochondrion 10:380-390
45. Lu J, Qian Y, Li Z, Yang A, Zhu Y, Li R, Yang L, Tang X, Chen B, Ding Y, Li Y, You J, Zheng J, Tao Z, Zhao F, Wang J, Sun D, Zhao J, Meng Y, Guan MX (2010b) Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation. Mitochondrion 10:69-81
46. Maassen JA, 'tHart LM, van Essen E, Heine RJ, Nijpels G, Jahangir Tafrechi RS, Raap AK, Janssen GMC, Lemkes HH (2004) Mitochondrial diabetes: molecular mechanisms and clinical presentation. Diabetes 53:103-109
47. Maász A, Komlósi K, Hadzsiev K, Szabó Z, Willems PJ, Gerlinger I, Kosztolányi G, Méhes K, Melegh B (2008) Phenotypic variants of the deafness-associated mitochondrial DNA A7445G mutation. Curr Med Chem 15:1257-1262
48. McFarland R, Elson JL, Taylor RW, Howell N, Turnbull DM (2004) Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough. Trends Genet 20:591-596
49. McKenzie M, Liolitsa D, Hanna MG (2004) Mitochondrial disease: mutations and mechanisms. Neurochem Res 3:589-600
50. Nance WE (2003) The genetics of deafness. Ment Retard Dev Disabil Res Rev 2:109-119
51. Ogle JM, Ramakrishnan V (2005) Structural insights into translational fidelity. Annu Rev Biochem 74:129-177
52. Leu(UUR) region and diabetes: prevalence and clinical phenotypes in Japan. Clin Chem 47:1641-1648
53. Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia. Am J Hum Genet 65:1803-1806
54. Prezant TR, Agapian JV, Bohlman MC, Bu X, Oztas S, Qiu WQ, Arnos KS, Cortopassi GA, Jaber L, Rotter JI, Shohat M, Fischel-Ghodsian N (1993) Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and nonsyndromic deafness. Nat Genet 4:289-294
55. Purohit P, Stern S (1994) Interactions of a small RNA with antibiotic and RNA ligands of the 30S subunit. Nature 370:659-662
56. Recht MI, Fourmy D, Blanchard SC, Dahlquist KD, Puglisi JD (1996) RNA sequence determinants for aminoglycoside bind to an A-site rRNA model oligonucleotide. J Mol Biol 262:421-436
57. Reid RM, Vernham GA, Jacobs HT (1994) A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Hum Mutat 3:243-247
58. Reid FM, Rovio A, Holt IJ, Jacobs HT (1997) Molecular phenotype of a human lymphoblastoid cell-line homoplasmic for the np 7445 deafness-associated mitochondrial mutation. Hum Mol Genet 6:443-449
59. Rodriguez-Ballesteros M, Olarte M, Aguirre LA, Galan F, Galan R, Vallejo LA, Navas C, Villamar M, Moreno-Pelayo MA, Moreno F, del Castillo I (2006) Molecular and clinical characterisation of three Spanish families with maternally inherited nonsyndromic hearing loss caused by the 1494C>T mutation in the mitochondrial 12S rRNA gene. J Med Genet 43:e54
60. Leu(UUR) associated with mitochondrial diseases. FEBS Lett 433:269-274
61. Rossmanith W, Tullo A, Potuschak T, Karwan R, Sbisà E (1995) Human mitochondrial tRNA processing. J Biol Chem 270:12885-12891
62. Ruiz-Pesini E, Wallace DC (2006) Evidence for adaptive selection acting on the tRNA and rRNA genes of human mitochondrial DNA. Hum Mutat 27:1072-1081
63. Sacconi S, Salviati L, Gooch C, Bonilla E, Shanske S, DiMauro S (2002) Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA. Arch Neurol 59:1013-1015
64. (Lys) gene (G8363A). Am J Hum Genet 58:933-939
65. Schacht J (1993) Biochemical basis of aminoglycoside ototoxicity. Otolaryngol Clin North Am 26:845-856
66. Schon EA, Bonilla E, DiMauro S (1997) Mitochondrial DNA mutations and pathogenesis. J Bioenerg Biomembr 29:131-149
67. Souied EH, Salès MJ, Soubrane G, Coscas G, Bigorie B, Kaplan J, Munnich A, Rötig A (1998) Macular dystrophy, diabetes, and deafness associated with a large mitochondrial DNA deletion. Am J Ophthalmol 125:100-103
68. Ser(UCN) gene. Neurology 52:1905-1908
69. Ser(UCN) 7505T>C mutation in a Han Chinese family. Mol Genet Metab 100:57-64
70. Tessa A, Giannotti A, Tieri L, Vilarinho L, Marotta G, Santorelli FM (2002) Maternally inherited deafness associated with a T1095C mutation in the mDNA. Eur J Hum Genet 9:147-149
71. Thyagarajan D, Bressman S, Bruno C, Przedborski S, Shanske S, Lynch T, Fahn S, DiMauro S (2000) A novel mitochondrial 12S rRNA point mutation in parkinsonism, deafness, and neuropathy. Ann Neurol 48:730-736
72. Ser(UCN) gene. Hum Mol Genet 4:1421-1427
73. (Val) gene associated with a complex neurological presentation. Ann Neurol 43:98-101
74. Toompuu M, Tiranti V, Zeviani M, Jacobs HT (1999) Molecular phenotype of the np7472 deafness-associated mitochondrial mutation in osteosarcoma cell cybrids. Hum Mol Genet 8:2275-2283
75. Ser(UCN). Biochem Biophys Res Commun 322:803-813
76. Leu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 1:368-371
77. Ser(UCN) gene. Eur J Hum Genet 7:45-51
78. Lys gene: clinical, biochemical and pathological study. J Neurol Sci 281:85-92
79. Wang Q, Li R, Zhao H, Peters JL, Liu Q, Yang L, Han D, Greinwald JH Jr, Young WY, Guan MX (2005) Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated mitochondrial 12S rRNA T1095C mutation. Am J Med Genet 133:27-30
80. Wang Q, Li QZ, Han D, Zhao Y, Zhao L, Qian Y, Yuan H, Li R, Zhai S, Young WY, Guan MX (2006) Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation. Biochem Biophys Res Commun 340:583-588
81. Wang X, Lu J, Zhu Y, Yang A, Yang L, Li R, Chen B, Qian Y, Tang X, Wang J, Zhang X, Guan MX (2008) Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families. Pharmacogenet Genomics 12:1059-1070
82. His gene. J Med Genet 48:682-690
83. Yao YG, Salas A, Bravi CM, Bandelt HJ (2006) A reappraisal of complete mtDNA variation in East Asian families with hearing impairment. Hum Genet 119:505-515
84. Yarham JW, Al-Dosary M, Blakely EL, Alston CL, Taylor RW, Elson JL, McFarland R (2011) A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations. Hum Mutat 32:1319-1325
85. (Ser(UCN)) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss. Am J Med Genet A. 2:133-140
86. Zhao H, Li R, Wang Q, Yan Q, Deng JH, Han D, Bai Y, Young WY, Guan MX (2004) Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family. Am J Hum Genet 74:139-152
87. Zhao H, Young WY, Yan Q, Li R, Cao J, Wang Q, Li X, Peters JL, Han D, Guan MX (2005a) Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and nonsyndromic hearing loss. Nucleic Acids Res 33:1132-1139
88. Zhao L, Wang Q, Qian Y, Li R, Cao J, Hart LC, Zhai S, Han D, Young WY, Guan MX (2005b) Clinical evaluation and mitochondrial genome sequence analysis of two Chinese families with aminoglycoside-induced and nonsyndromic hearing loss. Biochem Biophys Res Commun 336:967-973
89. Zwieb CD, Jemiolo DK, Jacob WF, Wagner R, Dahlberg AE (1986) Characterization of a collection of deletion mutants at the 3′-end of 16S ribosomal RNA of Escherichia coli. Mol Gen Genet 203:256-264