Artículos de revistas
C1494t Mitochondrial Dna Mutation, Hearing Loss, And Aminoglycosides Antibiotics [mutação Mitocondrial C1494t, Deficiência Auditiva E Uso De Antibióticos Aminoglicosídeos]
Registro en:
Brazilian Journal Of Otorhinolaryngology. , v. 75, n. 6, p. - , 2009.
18088694
2-s2.0-77649177644
Autor
Postal M.
Palodeto B.
Sartorato E.L.
De Oliveira C.A.
Institución
Resumen
In view of the complex mechanism of hearing, it is not difficult to understand that hearing impairment may result from a wide variety of genetically determined anomalies and various environmental factors. Specific mutations in the mitochondrial DNA 12S rRNA gene are responsible for maternally inherited non-syndromic hearing loss, and for increased susceptibility to the ototoxicity of aminoglycoside antibiotics. Aim: To asses the presence of C1494T mutation among individuals with normal hearing and hearing impairment who used aminoglycosides and those who had not had contact with the antibiotic. Material and Method: The study was composed of 20 patients with nonsyndromic sensorineural hearing loss without prior use of aminoglycosides and 40 premature and high-risk newborns who used ototoxic drugs, of whom 20 had good hearing and 20 had hearing loss. The samples were analyzed by PCR-RFLP with the restriction enzyme Hph I. Study Design: Experimental. Results: The mitochondrial 12S rRNA C1494T mutation was not detected in any of the samples analyzed. Conclusion: Our data suggest that the hearing loss of the individuals we analyzed was not related to the ototoxicity of mutation C1494T, showing that this mutation is not frequent in our population. © Revista Brasileira de Otorrinolaringologia. All Rights reserved. 75 6
Morton, C.C., Genetics, genomics and gene discovery in the auditory system (2002) Hum Mol Genet, 11, pp. 1229-1240 DiMauro, S., Davidzon, G., Mitochondrial DNA and disease (2005) Ann Med, 37, pp. 222-232 Guan, M.X., Molecular pathogenetic mechanism of maternally inherited deafness (2004) Ann NY Acad Sci, 1011, pp. 259-271 Jacobs, H.T., Disorders of mitochondrial protein synthesis (2003) Hum Mol Genet, 15, pp. 293-301 Ribeiro, F.A.Q., de Carvalho, M.F.P., As deficiências auditivas relacionadas às alterações do DNA mitocondrial. (2002) Rev Bras Otorrinolarigol, 68 (2), pp. 268-275 Fischel-Ghodsian, N., Genetic factors in aminoglycoside toxicity (2005) Pharmacogenomics, 6, pp. 27-36 Guan, M.X., Prevalence of mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity (2005) Volta Rev, 105, pp. 211-227 Fischel-Ghodsian, N., Genetic factor in aminoglycoside ototoxicity (1999) Ann NY Acad Sci, 884, pp. 99-109 Li, Z., Li, R., Chen, J., Liao, Z., Zhu, Y., Qian, Y., Mutation analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss (2005) Hum Genet, 117 (1), pp. 9-15 Prezant TR, Agapian JV, Bohlman MC, Bu X, Öztas S, Qiu WQ, et alMitochondrial ribosomal RNA mutation associated with both antibiotic- induced and non-syndromic deafness. Nat Genet. 1993;4:289-94Zhao, H., Young, W.Y., Yan, Q., Li, R., Cao, J., Wang, Q., Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss (2005) Nucleic Acids Res, 33 (3), pp. 1132-1139 Zhao, H., Li, R., Wang, Q., Yan, Q., Deng, J.H., Han, D., 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 (2004) Am J Hum Genet, 74 (1), pp. 139-152 Wang, Q., Li, Q.Z., Han, D., Zhao, Y., Zhao, L., Qian, Y., 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 (2006) Biochem Biophys Res Commun, 340 (2), pp. 583-588 Rodríguez-Ballesteros, M., Olarte, M., Aguirre, L.A., Galán, F., Galán, R., Vallejo, L.A., 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 (2006) J Med Genet, 43 (11), pp. e54 Han, D., Dai, P., Zhu, Q., Liu, X., Huang, D., Yuan, Y., 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 (2007) Biochem Biophys Res Commun, 357 (2), pp. 554-560 Konings, A., Van Camp, G., Goethals, A., Van Eyken, E., Vandevelde, A., Ben Azza, J., Mutation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients (2008) Mitochondrion, 8, pp. 377-382 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 (2008) Biochem Biophys Res Commun, 369 (3), pp. 849-852 Lewin, H.A., Stewart-Haynes, J.A., A simple method for DNA extraction from leukocytes for use in PCR (1992) Biotechniques, 13 (4), pp. 522-524 Gasparini, P., Estivill, X., Volpini, V., Totaro, A., Castellvi-Bel, S., Govea, N., Linkage of DFNB1 to non-syndromic neurosensory autosomalrecessive deafness in Mediterranean families (1997) Eur J Hum Genet, 5 (2), pp. 83-88 del Castillo, I., Villamar, M., Moreno-Pelayo, M.A., Del Castillo, F.J., Alvarez, A., Tellería, D., A deletion involving the connexin 30 gene in nonsyndromic hearing impairment (2002) N Engl J Med, 346, pp. 243-249 Estivill, X., Govea, N., Barceló, E., Badenas, C., Romero, E., Moral, L., Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides (1998) Am J Hum Genet, 62 (1), pp. 27-35 Reid, F.M., Vernham, G.A., Jacobs, H.T., A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness (1994) Hum Mutat, 3 (3), pp. 243-247 de Oliveira, J.A.A., Canedo, D.M., Rossato, M., Otoproteção das células ciliadas auditivas contra a ototoxicidade da amicacina. (2002) Rev Bras Otorrinolaringol, 68 (1), pp. 7-13 Xing, G., Chen, Z., Wei, Q., Tian, H., Li, X., Zhou, A., Mitochondrial 12S rRNA A827G mutation is involved in the genetic susceptibility to aminoglycoside ototoxicity (2006) Biochem Biophys Res Commun, 346 (4), pp. 1131-1135