C1494T mitochondrial dna mutation, hearing loss, and aminoglycosides antibiotics;Mutação mitocondrial C1494T, deficiência auditiva e uso de antibióticos aminoglicosídeos

Brazilian Journal of Otorhinolaryngology

Volumn 75, Issue 6, 2009, Pages 884-887

  Postal, Mariana ^a,b   Palodeto, Bruna ^a,b   Sartorato, Edi Lúcia ^a,b   De Oliveira, Camila Andréa ^a,b  

^a CENTRO UNIVERSITÁRIO HERMÍNIO OMETTO   (Brazil)

^b UNIVERSITY OF CAMPINAS   (Brazil)

Author keywords

Aminoglycosides; dna; Mitochondrial; Mutation

Indexed keywords

AMINOGLYCOSIDE; ANTIINFECTIVE AGENT; MITOCHONDRIAL DNA; RIBOSOME RNA; RNA, RIBOSOMAL, 12S;

ARTICLE; CASE CONTROL STUDY; CHEMICALLY INDUCED DISORDER; GENETICS; HEARING LOSS; HUMAN; NEWBORN; PERCEPTION DEAFNESS; POINT MUTATION; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

AMINOGLYCOSIDES; ANTI-BACTERIAL AGENTS; CASE-CONTROL STUDIES; DNA, MITOCHONDRIAL; HEARING LOSS; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT, NEWBORN; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RNA, RIBOSOMAL;

EID: 77649177644     PISSN: 18088694     EISSN: 18088686     Source Type: Journal    
DOI: 10.1016/S1808-8694(15)30554-1     Document Type: Article

References (25)

1. Morton CC. Genetics, genomics and gene discovery in the auditory system. Hum Mol Genet. 2002;11:1229-40.
2. DiMauro S, Davidzon G. Mitochondrial DNA and disease. Ann Med. 2005;37:222-32.
3. Guan MX. Molecular pathogenetic mechanism of maternally inherited deafness. Ann NY Acad Sci. 2004;1011:259-71.
4. Jacobs HT. Disorders of mitochondrial protein synthesis. Hum Mol Genet. 2003;15:293-301.
5. Ribeiro FAQ, de Carvalho MFP. As deficiências auditivas relacionadas às alterações do DNA mitocondrial. Rev Bras Otorrinolarigol. 2002;68(2):268-75.
6. Fischel-Ghodsian N. Genetic factors in aminoglycoside toxicity. Pharmacogenomics. 2005;6:27-36.
7. Guan MX. Prevalence of mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity. Volta Rev. 2005;105:211-27.
8. Fischel-Ghodsian N. Genetic factor in aminoglycoside ototoxicity. Ann NY Acad Sci. 1999;884:99-109.
9. Li Z, Li R, Chen J, Liao Z, Zhu Y, Qian Y, et al. Mutation analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss. Hum Genet. 2005;117(1):9-15.
10. Prezant TR, Agapian JV, Bohlman MC, Bu X, Öztas S, Qiu WQ, et al.
11. Mitochondrial ribosomal RNA mutation associated with both antibiotic- induced and non-syndromic deafness. Nat Genet. 1993;4:289-94.
12. 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 Acids Res. 2005;33(3):1132-9.
13. Zhao H, Li R, Wang Q, Yan Q, Deng JH, Han D, et al. 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. 2004;74(1):139-52.
14. Wang Q, Li QZ, Han D, Zhao Y, Zhao L, Qian Y, et al. 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. 2006;340(2):583-8.
15. Rodríguez-Ballesteros M, Olarte M, Aguirre LA, Galán F, Galán R, Vallejo LA, et al. Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C->T mutation in the mitochondrial 12S rRNA gene. J Med Genet. 2006;43(11):e54.
16. Han D, Dai P, Zhu Q, Liu X, Huang D, Yuan Y, et al. The mitochondrial tRNA(Ala) T5628C variant may have a modifying role in the phenotypic manifestation of the 12S rRNA C1494T mutation in a large Chinese family with hearing loss. Biochem Biophys Res Commun. 2007;357(2):554-60.
17. Konings A, Van Camp G, Goethals A, Van Eyken E, Vandevelde A, Ben Azza J, et al. Mutation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients. Mitochondrion. 2008;8:377-82.
18. Mkaouar-Rebai E, Tlili A, Masmoudi S, Charfeddine I, Fakhfakh F. New polymorphic mtDNA restriction site in the 12S rRNA gene detected in Tunisian patients with non-syndromic hearing loss. Biochem Biophys Res Commun. 2008;369(3):849-52.
19. Lewin HA, Stewart-Haynes JA. A simple method for DNA extraction from leukocytes for use in PCR. Biotechniques. 1992;13(4):522-4.
20. Gasparini P, Estivill X, Volpini V, Totaro A, Castellvi-Bel S, Govea N, et al. Linkage of DFNB1 to non-syndromic neurosensory autosomalrecessive deafness in Mediterranean families. Eur J Hum Genet. 1997;5 (2):83-8.
21. del Castillo I, Villamar M, Moreno-Pelayo MA, Del Castillo FJ, Alvarez A, Tellería D, et al. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N Engl J Med. 2002;346:243-9.
22. Estivill X, Govea N, Barceló E, Badenas C, Romero E, Moral L, et al. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. Am J Hum Genet. 1998;62(1):27-35.
23. Reid FM, Vernham GA, Jacobs HT. A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Hum Mutat. 1994;3(3):243-7.
24. de Oliveira JAA, Canedo DM, Rossato M. Otoproteção das células ciliadas auditivas contra a ototoxicidade da amicacina. Rev Bras Otorrinolaringol. 2002;68(1):7-13.
25. Xing G, Chen Z, Wei Q, Tian H, Li X, Zhou A, et al. Mitochondrial 12S rRNA A827G mutation is involved in the genetic susceptibility to aminoglycoside ototoxicity. Biochem Biophys Res Commun. 2006;346(4):1131-5.