Analysis Of Mitochondrial Alterations In Brazilian Patients With Sensorineural Hearing Loss Using Maldi-tof Mass Spectrometry

dc.creatorAlves
dc.creatorRM; Costa
dc.creatorSMD; Miranda
dc.creatorPMDD; Ramos
dc.creatorPZ; Marconi
dc.creatorTG; Oliveira
dc.creatorGS; Castilho
dc.creatorAM; Sartorato
dc.creatorEL
dc.date2016
dc.date2016-12-06T18:31:32Z
dc.date2016-12-06T18:31:32Z
dc.date.accessioned2018-03-29T02:04:10Z
dc.date.available2018-03-29T02:04:10Z
dc.identifier
dc.identifierBmc Medical Genetics. BIOMED CENTRAL LTD, n. 17, n. 41, p. .
dc.identifier1471-2350
dc.identifierWOS:000376497800001
dc.identifier10.1186/s12881-016-0303-5
dc.identifierhttp://bmcmedgenet.biomedcentral.com.ez88.periodicos.capes.gov.br/articles/10.1186/s12881-016-0303-5
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/320320
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1311086
dc.descriptionCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionMutations 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.
dc.description17
dc.description
dc.description
dc.description
dc.descriptionCoordenacao de Aperfeicoamento de Pessoal de Nivel Superior (CAPES)
dc.descriptionCNPq (Conselho Nacional de Desenvolvimento Cientifico e Tecnologico)
dc.descriptionFundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP)
dc.descriptionCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.description
dc.description
dc.description
dc.languageEnglish
dc.publisherBIOMED CENTRAL LTD
dc.publisherLONDON
dc.relationBMC Medical Genetics
dc.rightsaberto
dc.sourceWOS
dc.subjectMt-dna Mutations
dc.subjectHearing Loss
dc.subjectMolecular Diagnosis
dc.titleAnalysis Of Mitochondrial Alterations In Brazilian Patients With Sensorineural Hearing Loss Using Maldi-tof Mass Spectrometry
dc.typeArtículos de revistas


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