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dc.titleAnalysis Of Mitochondrial Alterations In Brazilian Patients With Sensorineural Hearing Loss Using Maldi-tof Mass Spectrometryen
dc.contributor.authorRogerio Marins; da Silva Costapt_BR
dc.contributor.authorSueli Matilde; do Amor Divino Mirandapt_BR
dc.contributor.authorPaulo Mauricio; Ramospt_BR
dc.contributor.authorPriscila Zonzini; Marconipt_BR
dc.contributor.authorThiago Gibbin; Oliveirapt_BR
dc.contributor.authorGisele Santos; Castilhopt_BR
dc.contributor.authorArthur Menino; Sartoratopt_BR
dc.contributor.authorEdi Luciapt_BR
unicamp.authorSartorato, Edi Lucia] Univ Estadual Campinas, Ctr Mol & Genet Engn CBMEG, Cidade Univ Zeferino Vaz,Ave Candido Rondon 400, Sao Paulo, Brazilpt_BR[Castilho, Arthur Menino] Univ Estadual Campinas, Otol Audiol & Implantable Ear Prostheses, Cidade Univ Zeferino Vaz, Sao Paulo, Brazilpt_BR[Alves, Rogerio Marinspt_BR Silva Costa, Sueli Matildept_BR Amor Divino Miranda, Paulo Mauriciopt_BR, Priscila Zonzinipt_BR, Thiago Gibbinpt_BR, Gisele Santospt_BR
dc.subjectMt-dna Mutationsen
dc.subjectHearing Lossen
dc.subjectMolecular Diagnosisen
dc.description.abstractMutations in the mitochondrial DNA (mtDNA) have been associated with aminoglycoside-induced and nonsyndromic deafness in different populations. In the present study, we investigated the contribution of mutations in mitochondrial genes to the etiology of hearing loss in a Brazilian sample. Methods: Using mass spectrometry genotyping technology, combined with direct sequencing, 50 alterations previously described in 14 mitochondrial genes were screened in 152 patients with sensorineural hearing loss and in 104 normal hearing controls. Results: Fifteen known mitochondrial alterations were detected (G709A, A735G, A827G, G988A, A1555G, T4363C, T5628C, T5655C, G5821A, C7462T, G8363A, T10454C, G12236A, T1291C, G15927A). Pathogenic mutations in MT-RNR1 and MT-TK genes were detected in 3 % (5/152) of the patients with hearing loss. Conclusions: This study contributed to show the spectrum of mitochondrial variants in Brazilian patients with hearing loss. Frequency of A1555G was relatively high (2.6 %), indicating that this mutation is an important cause of hearing loss in our population. This work reports for the first time the investigation and the detection of the tRNALys G8363A mutation in Brazilian patients with maternally inherited sensorineural hearing loss.en
dc.relation.ispartofBMC Medical Geneticspt_BR
dc.publisherBiomed Central Ltdpt_BR
dc.identifier.citationBmc Medical Genetics. Biomed Central Ltd, v. 17, p. , 2016.pt_BR
dc.description.sponsorshipCoordenacao de Aperfeicoamento de Pessoal de Nivel Superior (CAPES)pt_BR
dc.description.sponsorshipCNPq (Conselho Nacional de Desenvolvimento Cientifico e Tecnologico)pt_BR
dc.description.sponsorshipFundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP)pt_BR
dc.description.sponsorship1Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)pt_BR
dc.description.sponsorship1Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)pt_BR
dc.description.sponsorship1Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)pt_BR
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