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Type: Artigo
Title: Analysis Of Mitochondrial Alterations In Brazilian Patients With Sensorineural Hearing Loss Using Maldi-tof Mass Spectrometry
Author: Alves
Rogerio Marins; da Silva Costa
Sueli Matilde; do Amor Divino Miranda
Paulo Mauricio; Ramos
Priscila Zonzini; Marconi
Thiago Gibbin; Oliveira
Gisele Santos; Castilho
Arthur Menino; Sartorato
Edi Lucia
Abstract: Mutations 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.
Subject: Mt-dna Mutations
Hearing Loss
Molecular Diagnosis
Editor: Biomed Central Ltd
Citation: Bmc Medical Genetics. Biomed Central Ltd, v. 17, p. , 2016.
Rights: aberto
Identifier DOI: 10.1186/s12881-016-0303-5
Date Issue: 2016
Appears in Collections:Unicamp - Artigos e Outros Documentos

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