Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/75288
Type: Artigo de periódico
Title: Study of modifiers factors associated to mitochondrial mutations in individuals with hearing impairment
Author: de Moraes, VCS
Alexandrino, F
Andrade, PB
Camara, MF
Sartorato, EL
Abstract: Hearing 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.
Subject: Hearing loss
Deafness
Hearing impairment
Nuclear modulator gene
Nuclear modifier gene
Amiroglycosides
Mitochondrial mutation
12S rRNA
MTRNR1
A827G
A1555G
MTO1
TRMU
G28T
Country: EUA
Editor: Academic Press Inc Elsevier Science
Rights: fechado
Identifier DOI: 10.1016/j.bbrc.2009.02.014
Date Issue: 2009
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

Files in This Item:
File Description SizeFormat 
WOS000264455900015.pdf150.9 kBAdobe PDFView/Open


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.