Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/198247
Type: Artigo de periódico
Title: Study Of Modifiers Factors Associated To Mitochondrial Mutations In Individuals With Hearing Impairment.
Author: de Moraes, Vanessa Cristine Sousa
Alexandrino, Fabiana
Andrade, Paula Baloni
Câmara, Marília Fontenele
Sartorato, Edi Lúcia
Abstract: Hearing impairment is the most prevalent sensorial deficit in the general population. Congenital deafness occurs in about 1 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 mitochondrial 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.
Subject: Adult
Aminoglycosides
Carrier Proteins
Cell Nucleus
Connexins
Dna Mutational Analysis
Dna, Mitochondrial
Hearing Loss, Sensorineural
Humans
Infant, Newborn
Mitochondrial Proteins
Mutation
Rna, Ribosomal
Trna Methyltransferases
Citation: Biochemical And Biophysical Research Communications. v. 381, n. 2, p. 210-3, 2009-Apr.
Rights: fechado
Identifier DOI: 10.1016/j.bbrc.2009.02.014
Address: http://www.ncbi.nlm.nih.gov/pubmed/19338775
Date Issue: 2009
Appears in Collections:Unicamp - Artigos e Outros Documentos

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