Mitochondrial DNA mutations associated with aminoglycoside ototoxicity

Audiological Medicine

Volumn 4, Issue 4, 2006, Pages 170-178

  Guan, Min Xin ^a,b  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^b UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

Author keywords

Aminoglycosides; Hearing loss; Mitochondria

Indexed keywords

AMINOGLYCOSIDE; MITOCHONDRIAL DNA; RIBOSOME RNA;

CELL LINE; DRUG SAFETY; GENE MUTATION; HEARING IMPAIRMENT; HEARING LOSS; HUMAN; OTOTOXICITY; PATHOGENESIS; PATHOPHYSIOLOGY; PREVALENCE; PRIORITY JOURNAL; REVIEW; RISK ASSESSMENT;

EID: 35948929825     PISSN: 1651386X     EISSN: 16513835     Source Type: Journal    
DOI: 10.1080/16513860601136982     Document Type: Review

References (89)

1. Morton ME. Genetic epidemiology of hearing impairment. Ann NY Acad Sci. 1991;630:16-31.
2. Nance WE, Sweeney A. Symposium on sensorineural hearing loss in children: early detection and intervention: genetic factors in deafness in early life. Otolaryngol Clin North Am. 1075;8:19-48.
3. Morton CC. Genetics, genomics and gene discovery in the auditory system. Hum Mol Genet. 2002;11:1229-40.
4. Petit C, Levilliers J, Hardelin JP. Molecular genetics of hearing loss. Annu Rev Genet. 2001;35:589-646.
5. Friedman TB, Griffith AJ. Human non-syndromic sensorineural deafness. Annu Rev Genomics Hum Genet. 2003;24:341-402.
6. Van Camp G, Smith, RJH. Hereditary Hearing Loss Homepage 1998. (http://dnalab-www.uia.ac.be/dnalab/hhh).
7. Williems PJ. Genetic causes of hearing loss. N Engl J Med. 2000;342:1101-9.
8. Resendes BL, Williamson RE, Morton CC. At the Speed of Sound: Gene Discovery in the Auditory System. Am J Hum Genet. 2001;69:923-35.
9. Lortholary O, Tod M, Cohen Y, Petitjean O. Aminoglycosides. Med Clin North Am. 1995;79:761-98.
10. Sande MA, Mandell GL. Antimicrobial agents. In: Gilman AG, Rall TW, Nies AS, Taylor, editors. Goodman and Golman's The Pharmacological Basis of Therapeutics, 8th edn. Elmsford, NY: Pergamon Press; 1990. p. 1098-116.
11. Chamber HF, Sande MA. The aminoglycosides. In: Hardman JG, Limbird LE, Molinoff PB, Ruddon RW, Gilman A, editors. The Pharmacological Basis of Therapeutics, 9th edn. New York: McGraw-Hill; 1996. p. 1103-21.
12. Edson RS, Terrell CL. The aminoglycosides. Mayo Clin Proc. 1991;66:1158-64.
13. Henley CM, Schacht J. Pharmacokinetics of aminoglycoside antibiotics in blood, inner ear fluids and their relationship to ototoxicity. Audiology. 1988;27:137-46.
14. Vrabec DP, Cody DT, Ulrich JA. A study of the relative concentrations of antibiotics in the blood, spinal fluid and perilymph in animals. Ann Otol Rhino & Laryngol. 1965;74:689-78.
15. Fischel-Ghodsian N. Genetic factors in aminoglycoside toxicity. Pharmacogenomics. 2005;6:27-36.
16. Price KE. Aminoglycoside research 1975-1985: prospects for development of improved agents. Antimicrob Agent Chemother. 1986;29:543-8.
17. Moore RD, Smith CR, Lietman PS. Risk factors for the development of auditory toxicity in patients receiving aminoglycosides. J Infect Dis. 1984;149:23-30.
18. Rybak LP. Drug ototoxicity. Annu Rev Pharmacol Toxicol. 1986;26:79-99.
19. Prazic MB, Salaj B, Subotic R. Familial sensitivity to streptomycin. J Laryngol Otol. 1964;78:1037-43.
20. Hu DN, Qui WQ, Wu BT, Fang LZ, Gu YP, Zhang QH, et al. Genetic aspects of antibiotic-induced deafness: mitochondrial inheritance. J Med Genet. 1991;28:79-83.
21. Li Z, Li R, Chen J, Liao Z, Zhu Y, Qian Y, et al. Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside induced and non-syndromic hearing loss. Hum Genet. 2005;117:9-15.
22. Fischel-Ghodsian N. Mitochondrial deafness mutations reviewed. Hum Mut. 1999;13:261-70.
23. Guan MX. Molecular pathogenetic mechanism of maternally inherited deafness. Ann NY Acad Sci. 2004;1011:259-71.
24. Guan MX. Prevalence of mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity. The Volta Review. 2005;105:211-37.
25. Higashi K. Unique inheritance of streptomycin-induced deafness. Clin Genet. 1989;35:433-6.
26. Davis J, Davis BD. Misreading of ribonucleic acid code words induced by aminoglycoside antibiotics. J Biol Chem. 1968;243:3312-6.
27. Noller HF. Ribosomal RNA and translation. Annu Rev Biochem. 1991;60:191-227.
28. Fourmy D, Recht MI, Puglisi JD. Binding of neomycin-class aminoglycoside antibiotics to A-site of 16S rRNA. J Mol Biol. 1998;277:347-62.
29. Purohit P, Stern S. Interactions of a small RNA with antibiotic and RNA ligands of the 30S subunit. Nature. 1994;370:659-62.
30. Moazed D, Noller HF. Interaction of antibiotics with functional sites in 16S ribosomal RNA. Nature. 1987;327:389-94.
31. Hutchin T, Haworth I, Higashi K, Fischel-Ghodsian N, Stoneking M, Saha N, et al. A molecular basis for human hypersensitivity to aminoglycoside antibiotics. Nuclear Acids Res. 1993;21:4174-9.
32. Prezant TR, Agapian JV, Bohlman MC, Bu X, Oztas S, Qiu WQ, et al. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nature Genet. 1993;4:289-94.
33. Zimmermann RA, Thomas CL, Wower J. Structure and function of rRNA in the decoding domain and at the peptidyltransferase center. In: Hill WE, Moore PB, Dahlberg A, Schlessinger D, Garrett RA, Warner JR, editors. The Ribosome: Structure, Function and Evolution. Washington, DC: American Society for Microbiology; 1990. p. 331-47.
34. Neefs JM, van de Peer Y, de Rijik P, Goris A, deWachter R. Compilation of small ribosomal subunit RNA sequences. Nucl Acids Res. 1991;19(Suppl):1987- 2018.
35. De Stasio EA, Dahlberg AE. Effects of mutagenesis of a conserved base-paired site near the decoding region of Escherichia coli 16S ribosomal RNA. J Mol Biol. 1990;212:127-33.
36. Zwieb CD, Jemiolo DK, Jacob WF, Wagner R, Dahlberg AE. Characterization of a collection of deletion mutants at the 3′-end of 16S ribosomal RNA of Escherichia coli. Mol Gen Genet. 1986;203:256-64.
37. Recht MI, Fourmy D, Blanchard SC, Dahlquist KD, Puglisi JD. RNA sequence determinants for aminoglycoside bind to an A-site rRNA model oligonucleotide. J Mol Biol. 1996;262:421-36.
38. Fourmy D, Recht MI, Blanchard SC, Puglisi JD. Structure of the A-site of Escherichia coli 16S ribosomal RNA complexed with an aminoglycoside antibiotic. Science. 1996;274:1367-71.
39. Gregory ST, Dahlberg AE. Nonsense suppressor and antisuppressor mutations at the 1409-1491 base pair in the decoding region of Escherichia coli 16S rRNA. Nucl Acids Res. 1995;23:4234-8.
40. Chernoff YO, Vincent A, Liebman SW. Mutations in eukaryotic 18S ribosomal RNA affect translational fidelity and resistance to aminoglycoside antibiotics. EMBO J. 1994;13:906-13.
41. De Stasio EA, Moazed D, Noller HF, Dahlberg AE. Mutations in 16S ribosomal RNA disrupt antibiotic-RNA interactions. EMBO J. 1989;8:1213-6.
42. Li M, Tzagoloff A, Underbrink-Lyon K, Martin NC. Identification of the paromomycin-resistance mutation in the 15S rRNA gene of yeast mitochondria. J Biol Chem. 1982;257:5921-8.
43. Spangler EA, Blackburn EH. The nucleotide sequence of the 17S ribosomal RNA gene of Tetrahymena thermophila and the identification of point mutations resulting in resistance to the antibiotics paromycin and hygromycin. J Biol Chem. 1985;260:6334-40.
44. Hamasaki K, Rando RR. Specific binding of aminoglycosides to a human rRNA construct based on a DNA polymorphism, which causes aminoglycoside-induced deafness. Biochemistry. 1887;36:12323-8.
45. Inoue K, Takai D, Soejima A, Isobe K, Yamasoba T, Oka Y, et al. Mutant mtDNA at 1555 A to G in 12S rRNA gene and hypersusceptibility of mitochondrial translation to streptomycin can be co-transferred to rhoo HeLa cells. Biochem Biophy Res Commun. 1996;223:496-501.
46. Giordano C, Pallotti F, Walker WF, Checcarelli N, Musumeci O, Santorelli F, et al. Pathogenesis of the deafness-associated A1555G mitochondrial DNA mutation Biochem Biophys Res Commun. 2002;293:521-9.
47. Fischel-Ghodsian N, Prezant TR, Bu X, Oztas S. Mitochondrial ribosomal RNA gene mutation in a patient with sporadic aminoglycoside ototoxicity. Am J Otolaryng. 1993;4:399-403.
48. Estivill X, Govea N, Barcelo A, Perello E, Badenas C, Romero E, et al. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides. Am J Hum Genet. 1998;62:27-35.
49. Casano RAMS, Johnson DF, Hamon M, Bykhovskaya Y, Torriceli F, Bigozzi M, et al. Hearing loss due to the mitochondrial A1555G mutation in Italian families. Am J Med Genet. 1998;79:388-91.
50. Pandya A, Xia X, Radnaabazar J, Batsuuri J, Dangaansuren B, Fischel-Ghodsian N, Nance WE. Mutation in the mitochondrial 12S ribosomal-RNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity. J Med Genet. 1997;34:169-72.
51. Matthijs G, Claes S, Longo-Bbenza B, Cassiman J-J. Non-syndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large Zairean pedigree. Eur J Hum Genet. 1996;4:46-51.
52. Gardner JC, Goliath R, Viljoen D, Sellars S, Cortopassi G, Hutchin T, et al. Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder. J Med Genet. 1997;34:904-6.
53. Li R, Xing G, Yan M, Cao X, Liu XZ, Bu X, Guan MX. Cosegregation of C-insertion at position 961 with A1555G mutation of mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss. Am J Med Genet. 2004;124:113-7.
54. Nye JS, Hayes EA, Amendola M, Vaughn D, Charrow J, McLone DG, et al. Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies. Teratology. 2000;61:165-71.
55. Young WY, Zhao L, Qian Y, Wang Q, Li N, Greinwald JH, Guan MX. Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation. Biochem Biophys Res Commun. 2005;328:1244-51.
56. Usami SI, Abe S, Kasai M, Shinkawa H, Moeller B, Kenyon JB, Kimberling WJ. Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation. Laryngoscope. 1997;107:483-90.
57. Malik S, Sudoyo H, Sasmono T, Winata S, Arhya IN, Pramoonjago P, et al. Non-syndromic sensorineural deafness associated with the A1555G mutation in the mitochondrial small subunit ribosomal RNA in a Balinese family. J Hum Genet. 2003;48:119-24.
58. del Castillo FJ, Rodriguez-Ballesteros M, Martin Y, Arellano B, Gallo-Teran J, Morales-Angulo C, et al. Heteroplasmy for the 1555A >/G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss. J Med Genet. 2003;40:632-6.
59. el-Schahawi M, Lopez de Munain A, Sarrazin AM, Shanske AL, Basirico M, Shanske S, DiMauro S. Two large Spanish pedigrees with non-syndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12S rRNA gene: evidence of heteroplasmy. Neurology. 1997;48:453-6.
60. Ser(UCN) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside- induced and non-syndromic hearing loss. Am J Med Genet. 2005;138:133-40.
61. Santorelli FM, Tanji K, Manta P, Casali C, Krishna S, Hays AP, et al. Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation. Am J Hum Genet. 1999;64:295-300.
62. Guan MX, Fischel-Ghodsian N, Attardi G. Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation. Hum Mol Genet. 1996;6:963-72.
63. Guan MX, Fischel-Ghodsian N, Attardi G. Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation. Hum Mol Genet. 2001;10:573-80.
64. Guan MX, Fischel-Ghodsian N, Attardi G. A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity. Hum Mol Genet. 2000;9:1787-93.
65. Li X, Guan MX. A human mitochondrial GTP binding protein related to tRNA modification may modulate the phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation. Mol Cell Biol. 2002;22:7701-11.
66. Li X, Li R, Lin X, Guan MX. Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12S rRNA A1555G mutation. J Biol Chem. 2002;277:27256-64.
67. Yan Q, Li X, Faye G, Guan MX. Mutations in MTO2 related to tRNA modification impair mitochondrial gene expression and protein synthesis in the presence of a paromomycin resistance mutation in mitochondrial 15S rRNA. J Biol Chem. 2005;280:29151-7.
68. Zhao H, Li R, Wang Q, Yan Q, Deng JH, Bai Y, et al. Maternally inherited aminoglycoside-induced and non-syndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family. Am J Hum Genet. 2004;74:139-52.
69. Zhao L, Young WY, Li R, Wang Q, Qian Y, Guan MX. Clinical evaluation and sequence analysis of the complete mitochondrial genome of three Chinese patients with hearing impairment associated with the 12S rRNAT1095C mutation. Biochem Biophys Res Commun. 2004;325:1503-8.
70. Thyagarajan D, Bressman S, Bruno C, Przedborski S, Shanske S, Lynch T, et al. A novel mitochondrial 12SrRNA point mutation in Parkinsonism, deafness, and neuropathy. Ann Neurol. 2002;48:730-6.
71. Tessa A, Giannotti A, Tieri L, Vilarinho L, Marotta G, Santorelli FM. Maternally inherited deafness associated with a T1095C mutation in the mDNA. Eur J Hum Genet. 2002;9:147-9.
72. Wang Q, Li R, Zhao H, Yang L, Peters JL, Han D, et al. Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated mitochondrial 12S rRNA T1095C mutation. Am J Med Genet. 2005;133:27-30.
73. Bacino C, Prezant TR, Bu X, Fournier P, Fischel-Ghodsian N. Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside-induced deafness. Pharmacogenetics. 1995;5:165-72.
74. Casano RA, Johnson DF, Bykhovskaya Y, Torricelli F, Bigozzi M, Fischel-Ghodsian N. Inherited susceptibility to aminoglycoside ototoxicity: genetic heterogeneity and clinical implications. Am J Otolaryngol. 1999;20:151-6.
75. Tang HY, Hutcheson E, Neill S, Drummond-Borg M, Speer M, Alford RL. Genetic susceptibility to aminoglycoside ototoxicity: how many are at risk? Genet Med. 2002;4:336-45.
76. Yoshida M, Shintani T, Hirao M, Himi T, Yamaguchi A, Kikuchi K. Aminoglycoside-induced hearing loss in a patient with the 961 mutation in mitochondrial DNA. ORL J Otorhinolaryngol Relat Spec. 2002;64:219-22.
77. Ser(UCN) genes in pediatric subjects with non-syndromic hearing loss. J Med Genet. 2004;41:615-20.
78. Zhao H, Young WY, Yan Q, Li R, Cao J, Wang Q, et al. Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss. Nucleic Acid Res. 2005;33:1132-9.
79. Bykhovskaya Y, Shohat M, Ehrenman K, Johnson D, Hamon M, Cantor RM, et al. Evidence for complex nuclear inheritance in a pedigree with non-syndromic deafness due to a homoplasmic mitochondrial mutation. Am J Med Genet. 1998;77:421-6.
80. Guan MX, Yan Q, Li X, Bykhovskaya Y, Gallo-Teran J, Hajek P, et al. Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations. Am J Hum Genet. 2006;79:291-302.
81. Thr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss. Am J Med Genet. 2006;140:2188-97.
82. Usami SI, Abe S, Akita J, Namba A, Shinkawa H, Ishii M, et al. Prevalence of mitochondrial gene mutations among hearing impaired patients. J Med Genet. 2000;37:38-40.
83. Fischel-Ghodsian N, Prezant TR, Chaltraw WE, Wendt KA, Nelson RA, Arnos KS, Falk RE. Mitochondrial gene mutation is a significant predisposing factor in aminoglycoside ototoxicity. Am J Otolaryngol. 1997;18:17317-8.
84. Ostergaard E, Montserrat-Sentis B, Gronskov K, Brondum-Nielsen K. The A1555G mtDNA mutation in Danish hearing-impaired patients: frequency and clinical signs. Clin Genet. 2002;62:303-5.
85. Kupka S, Tóth T, Wróbel M, Zeißler U, Szyfter W, Szyfter K, et al. Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian and Polish patients. Hum Mutat. 2002;19:308-9.
86. Jacobs HT, Hutchin TP, Kappi T, Gillies G, Minkkinen K, Walker J, et al. Mitochondrial DNA mutations in patients with postlingual, non-syndromic hearing impairment. Eur J Hum Genet. 2005;13:26-33.
87. Tekin M, Duman T, Bogoclu G, Incesulu A, Comak E, Fitoz S, et al. Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey. Eur J Pediatr. 2003;162:154-8.
88. Usami SI, Abe S, Akita J, Namba A, Shinkawa H, Ishii M, et al. Prevalence of mitochondrial gene mutations among hearing impaired patients. J Med Genet. 2000;37:38-40.
89. Malik SG, Pieter N, Sudoyo H, Kadir A, Marzuki S. Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island south-east Asia. J Hum Genet. 2003;48:480-3.