Genetics of aminoglycocide-induced and prelingual non-syndromic mitochondrial hearing impairment: A review

References

• Attardi G., Schatz G. Biogenesis of mitochondria. Ann Rev Cell Biol 1988; 4: 289–333
   PubMedGoogle Scholar
• Abreu-Silva R.S., Lezirovitz K., Braga M.C.C., Spinelli M., Pirana S., et al. Prevalence of the A1555G (12S rRNA) and tRNA Ser (UCN) mitochondrial mutations in hearing-impaired Brazilian patients. Braz J Med Biol Res 2006; 39: 219–226
   PubMed Web of Science ®Google Scholar
• Bacino C., Prezant T.R., 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
   PubMedGoogle Scholar
• Bronya J.B., Keats, Charles I.B. & Gregory P. 2006. Epidemiology of Genetic Hearing Loss. Seminars in Hearing. 27(3), 136–147.
   Google Scholar
• Chamber H.F. & Sande M.A. 1996. The aminoglycosides. In: J.G. Hardman, L.E. Limbird, P.B. Molinoff, R.W. Ruddon & A. Gilman The Pharmacological Basis of Therapeutics, 9^th edn McGraw-Hill, pp 1103–21.
   Google Scholar
• Davis J., Davis B.D. Misreading of ribonucleic acid code words induced by aminoglycoside antibiotics. J Biol Chem 1968; 243: 3312–6
   PubMed Web of Science ®Google Scholar
• El-Schahawai M., deMunain L., Sarrazin A.M., Shanske A.L., Basirico M., et al. Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt1555 in the 12S rRNA gene: Evidence of heteroplasmy. Neurology 1997; 48: 453–456
   PubMedGoogle Scholar
• Fischel-Ghodsian N., Prezant T.R., Bu X., Oztas S. Mitochondrial ribosomal RNA gene mutation associated with aminoglycoside ototoxicity. Am J Otolaryngol 1993; 14: 399–403
   PubMed Web of Science ®Google Scholar
• Fischel-Ghodsian N., Bykhovskyaya Y., Taylor K., Kahen T., Cantor R., et al. Temporal bone analysis of patients with presbycusis reveals high frequency of mitochondrial mutations. Hear Res 1997a; 110: 147–154
   PubMed Web of Science ®Google Scholar
• Fischel-Ghodsian N., Prezant T.R., Chaltraw W., Wendt K.A., Nelson R.A., et al. Mitochondrial gene mutations: A common predisposing factor in aminoglycoside ototoxicity. Am J Otolaryngol 1997b; 18: 173–8
   PubMed Web of Science ®Google Scholar
• Fischel-Ghodsian N. Genetic factors in aminoglycoside toxicity. Pharmacogenomics 2005; 6: 27–36
   PubMed Web of Science ®Google Scholar
• Guan M.X., Fischel-Ghodsian N., Attardi G. A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity. Hum Mol Genet 2000; 9: 1787–93
   PubMed Web of Science ®Google Scholar
• Guan M.X. Mitochondrial DNA mutations associated with aminoglycoside ototoxicity. Audiological Medicine 2006; 4: 170–178
   Google Scholar
• Guan M.X., Fischel-Ghodsian N., Attardi G. Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation. Hum Mol Genet 2001; 10: 573–580
   PubMed Web of Science ®Google Scholar
• Guan M.X., Qingfeng Yan., Xiaoming Li., Yelena B., 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 Human Gen 2006; 79: 291–302
   PubMed Web of Science ®Google Scholar
• Gurtler N., Schmuziger N., Kim Y., et al. Audiological testing and molecular analysis of 12S rRNA in patients receiving aminoglycosides. Laryngoscope 2005; 115: 640–644
   PubMed Web of Science ®Google Scholar
• Hutchin T., Haworth I., Higashi K., Fischel-Ghodsian N., Stoneking M., et al. A molecular basis for human hypersensitivity to aminoglycoside antibiotics. Nucleic Acids Res 1993; 21: 4174–4179
   PubMed Web of Science ®Google Scholar
• Jacobs H.T., Hutchin T.P., Kappi T., Gillies G., Minkkinen K., et al. Mitochondrial DNA mutations in patients with postlingual, non-syndromic hearing impairment. Eur J Hum Genet 2005; 13: 26–33
   PubMed Web of Science ®Google Scholar
• Kupka S., Toth T., Wrobel M., Zeibler U., Szyfter W., 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
   PubMedGoogle Scholar
• Lortholary O., Tod M., Cohen Y., Petitjean O. Aminoglycosides. Med Clin North Am 1995; 79: 761–98
   PubMed Web of Science ®Google Scholar
• Lopez-Bigas N., Rabionet R., Martinez E., Bravo O., Girons J., et al. Mutations in the mitochondrial tRNA Ser(UCN) and in the GJB2 (connexin 26) gene are not modifiers of the age of onset or severity of hearing loss in Spanish patients with the 12S rRNA A1555G mutation. Am J Hum Genet 2000; 66: 1465–1467
   PubMedGoogle Scholar
• Li R., Grienwald J.H., Yang L., Choo D.I., Wenstrup R.J., et al. Molecular analysis of mitochondrial 12S rRNA and tRNA ser(UCN) genes in pediatric subjects with nonsyndromic hearing loss. J Med Genet 2004; 41: 615–620
   PubMed Web of Science ®Google Scholar
• Li Z., Li R., Chen J., Liao Z., Zhu 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
   PubMed Web of Science ®Google Scholar
• Malik S.G., Pieter N., Sudoyo H., Kadir A., Marzuki S. Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island, south east Asia. Hum Genet. 2003; 48: 480–3
   Google Scholar
• Matthijs G., Claes S., Longo-Bbenza B., Cassiman J.J. Nonsyndromic deafness associated with mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large Zairean pedigree. Eur J Hum Genet 1996; 4: 46–51
   PubMed Web of Science ®Google Scholar
• Morton M.E. Genetic epidemiology of hearing impairment. Ann NY Acad Sci 1991; 630: 16–31
   PubMed Web of Science ®Google Scholar
• Morton C.C. Genetics, genomics and gene discovery in the auditory system. Hum Mol Genet 2002; 11: 1229–40
   PubMed Web of Science ®Google Scholar
• Nagley P., Zhang C., Martinus R. D., Vaillant F., Linnane A.W. Mitochondrial DNA mutations and human aging: molecular biology, bioenergetics, and redox therapy. Mitochondrial DNA in Human Pathology, S. DiMauro, D.C. Wallace. Raven Press, , N.Y 1993; 137–157
   Google Scholar
• Nance W.E., Sweeney A. Symposium on sensorineural hearing loss in children: early detection and intervention: Genetic factors in deafness in early life. Otolaryngol Clin North Am. 1975; 8: 19–48
   PubMedGoogle Scholar
• Noller H.F. Ribosomal RNA and translation. Annu Rev Biochem. 1991; 60: 191–227
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• Pandya A., Xia X., Erdenetungalag M., Amendola B., Landa L., et al. Heterogenous point mutations in the mitochondrial tRNASer(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia. Am J Hum Genet 1999; 65: 1803–1806
   PubMed Web of Science ®Google Scholar
• Pandya A., Xia X., Radnaabazar J., Batsuuri J., Dangaansuren B., , et al 1997. Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity. J Med Genet, 34, 169, pp 1098–116, 172.
   Google Scholar
• Prezant T.R., Agapian J.V., Bohlman M.C., Bu X., Oztas S., et al. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and nonsyndromic deafness. Nat Genet 1993; 4: 289–294
   PubMed Web of Science ®Google Scholar
• Petit C. Genes responsible for human hereditary deafness: Symphony of a thousand. Nat Genet 1996; 14: 385–9
   PubMed Web of Science ®Google Scholar
• Reardon W., Ross R.J.M., Sweeney M.G., Luxon L.M., Pembrey M.E., et al. Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA. Lancet 1992; 340: 1376–79
   PubMed Web of Science ®Google Scholar
• Sande M.A., Mandell G.L. Antimicrobial agents. Goodman and Gilman's The Pharmacological Basis of Therapeutics, 8th edn, A.G. Gilman, T.W. Rall, A.S. Nies. Pergamon Press, Elmsford, NY 1990; 1098–116
   Google Scholar
• Tang H.Y., Hutcheson E., Neill S., Drummond-Borg M., Speer M., et al. Genetic susceptibility to aminoglycoside ototoxicity: how many are at risk?. Genet Med 2002; 4: 336–45
   PubMed Web of Science ®Google Scholar
• Tekin M., Duman T., Bogoclu G., Incesulu A., Comak E., et al. Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey. Eur J Pediatr 2003; 162: 154–8
   PubMedGoogle Scholar
• Tessa A., Giannotti A., Tieri L., Vilarinho L., Marotta G., , et al 2002. Maternally inherited deafness associated with a T1095C mutation in the mtDNA. Eur J Hum Genet, 9, 147 pp 1098–116. 9.
   Google Scholar
• Thyagarajan D., Bressman S., Bruno C., Przedborski S., Shanske S., et al. A novel mitochondrial 12S rRNA point mutation in Parkinsonism, deafness, and neuropathy. Ann Neurol 2002; 48: 730–6
   Google Scholar
• Usami S.I., Abe S., Akita J., Namba A., Shinkawa H., et al. Prevalence of mitochondrial gene mutations among hearing impaired patients. J Med Genet 2000; 37: 38–40
   PubMed Web of Science ®Google Scholar
• van den Ouweland J.M., Lemkes H.H.P.J., Ruitenbeek W., Sandkuijl L.A., De Vijlder M.F., et al. Mutation in mitochondrial tRNA Leu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 1992; 1: 368–371
   PubMed Web of Science ®Google Scholar
• Van Camp G., Willems P.T., Smith R.J. Nonsyndromic hearing impairment: Unparalleled heterogeneity. Am J Hum Genet 1997; 60: 758–64
   PubMed Web of Science ®Google Scholar
• Wallace D.C., Lott M.T., Brown M.D., Huoponen K., Torroni A. Report of the committee on human mitochondrial DNA. Human Gene Mapping 1995:A Compendium, A. J. Cuticchia. Johns Hopkins University Press, Baltimore 1995; 910–954
   Google Scholar
• Xing G., Chen Q., Wei H., Tian H., Li X., et al. Maternally inherited non-syndromic hearing loss associated with mitochondrial 12S rRNA A827G mutation in a Chinese family. Biochem Biophys Res Commun 2006; 344: 1253–1257
   PubMed Web of Science ®Google Scholar
• Xing G., Chen Z., Wei Q., Tian H., Li X., et al. Mitochondrial 12S rRNA A827G mutation is involved in the genetic susceptibility to aminoglycoside ototoxicity. Biochem Biophys Res Commun 2006; 346: 1131–1135
   PubMed Web of Science ®Google Scholar
• Yamasoba & Tsukuda. 2004. Ototoxicity after use of neomycin eardrops is unrelated to A1555G point mutation in mitochondrial DNA. J Laryngol Otol, 118, 546–550.
   PubMedGoogle Scholar
• Yan Q., Bykhovskaya Y., Li R., Mengesha E., Shohat M., et al. Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations. Biochem Biophys Res Commun 2006; 342: 1130–1136
   PubMedGoogle Scholar
• Yoshida M., Shintani T., Hirao M., Himi M., Yamaguchi A., et al. Aminoglycoside-induced hearing loss in a patient with the 961 mutation in mitochondrial DNA. ORL J Otorhinolaryngol Relat Spec 2002; 64: 219–22
   PubMedGoogle Scholar
• Young W.Y., Zhao L., Qian Y., Wang Q., Li N., et al. 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
   PubMed Web of Science ®Google Scholar
• Yuan H., Quian Y., Xu Y., Cao J., Bai L., et al. Cosegregation of the G7444A mutation in the mitochondrial COI/tRNASer(UCN) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss. Am J Med Genet 2005; 138A: 133–140
   PubMedGoogle Scholar
• Yi Zhu., Yaping Qian., Xiaowen Tang., Jindan Wang., Li Yang, , et al 2006. Aminoglycoside-induced and non-syndromic hearing loss is associated with the G7444A mutation in the mitochondrial COI/tRNA Ser(UCN) genes in two Chinese families. Biochem Biophys Res Commun, 342, 843–850.
   PubMedGoogle Scholar
• Yu Qi., Zhang Y., Wang Z., Yang Y., Yuan Y., et al. Screening of common mitochondrial mutations in Chinese patients with mitochondrial encephalomyopathies. Mitochondrion 2007; 7: 147–150
   PubMed Web of Science ®Google Scholar
• Zhao H., Li R., Wang Q., Yan Q., Deng J.H., 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: 139–152
   PubMed Web of Science ®Google Scholar