Study of modifiers factors associated to mitochondrial mutations in individuals with hearing impairment

dc.creatorde Moraes, VCS
dc.creatorAlexandrino, F
dc.creatorAndrade, PB
dc.creatorCamara, MF
dc.creatorSartorato, EL
dc.date2009
dc.dateAPR 3
dc.date2014-11-18T19:42:42Z
dc.date2015-11-26T16:58:15Z
dc.date2014-11-18T19:42:42Z
dc.date2015-11-26T16:58:15Z
dc.date.accessioned2018-03-28T23:45:52Z
dc.date.available2018-03-28T23:45:52Z
dc.identifierBiochemical And Biophysical Research Communications. Academic Press Inc Elsevier Science, v. 381, n. 2, n. 210, n. 213, 2009.
dc.identifier0006-291X
dc.identifierWOS:000264455900015
dc.identifier10.1016/j.bbrc.2009.02.014
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/75288
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/75288
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/75288
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1277877
dc.descriptionHearing impairment is the most prevalent sensorial deficit in the general population. Congenital deafness occurs in about I in 1000 live births, of which approximately 50% has hereditary cause in development countries. Non-syndromic deafness can be caused by mutations in both nuclear and mitochondrial genes. Mutations in mtDNA have been associated with aminoglycoside-induced and non-syndromic deafness in many families worldwide. However, the nuclear background influences the phenotypic expression of these pathogenic Mutations. Indeed, it has been proposed that nuclear modifier genes modulate the phenotypic manifestation of the mitochondrial A1555G mutation in the MTRNR1 gene. The both putative nuclear modifiers genes TRMU and MTO1 encoding a highly conserved mitochondrial related to tRNA modification. It has been hypothesizes that human TRMU and also MTO1 nuclear genes may modulate the phenotypic manifestation of deafness-associated mitochondrial mutations. The aim of this work was to elucidate the contribution of rnitochondrial mutations, nuclear modifier genes Mutations and aminoglycoside exposure in the deafness phenotype. Our findings suggest that the genetic background of individuals may play an important role in the pathogenesis of deafness-associated with mitochondrial mutation and aminoglycoside-induced. (C) 2009 Elsevier Inc. All rights reserved.
dc.description381
dc.description2
dc.description210
dc.description213
dc.languageen
dc.publisherAcademic Press Inc Elsevier Science
dc.publisherSan Diego
dc.publisherEUA
dc.relationBiochemical And Biophysical Research Communications
dc.relationBiochem. Biophys. Res. Commun.
dc.rightsfechado
dc.rightshttp://www.elsevier.com/about/open-access/open-access-policies/article-posting-policy
dc.sourceWeb of Science
dc.subjectHearing loss
dc.subjectDeafness
dc.subjectHearing impairment
dc.subjectNuclear modulator gene
dc.subjectNuclear modifier gene
dc.subjectAmiroglycosides
dc.subjectMitochondrial mutation
dc.subject12S rRNA
dc.subjectMTRNR1
dc.subjectA827G
dc.subjectA1555G
dc.subjectMTO1
dc.subjectTRMU
dc.subjectG28T
dc.subject12s Ribosomal-rna
dc.subjectLarge Chinese Family
dc.subjectA1555g Mutation
dc.subjectAminoglycoside Ototoxicity
dc.subjectSensorineural Deafness
dc.subjectPhenotypic-expression
dc.subjectPediatric Subjects
dc.subjectA827g Mutation
dc.subjectGene
dc.subjectDna
dc.titleStudy of modifiers factors associated to mitochondrial mutations in individuals with hearing impairment
dc.typeArtículos de revistas


Este ítem pertenece a la siguiente institución