Analysis of mitochondrial alterations in Brazilian patients with sensorineural hearing loss using MALDI-TOF mass spectrometry

BMC Med Genet. 2016 May 26;17(1):41. doi: 10.1186/s12881-016-0303-5.


Background: 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 in104 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 tRNA(Lys) G8363A mutation in Brazilian patients with maternally inherited sensorineural hearing loss.

Keywords: Hearing loss; Molecular diagnosis; mt-DNA mutations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brazil
  • Case-Control Studies
  • DNA, Mitochondrial / analysis*
  • DNA, Mitochondrial / genetics
  • DNA, Mitochondrial / metabolism
  • Female
  • Genotype
  • Hearing Loss, Sensorineural / genetics*
  • Hearing Loss, Sensorineural / pathology
  • Humans
  • Male
  • Mitochondria / genetics*
  • Nuclear Receptor Subfamily 4, Group A, Member 2 / genetics
  • RNA, Transfer, Lys / genetics
  • Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization*


  • DNA, Mitochondrial
  • Nuclear Receptor Subfamily 4, Group A, Member 2
  • RNA, Transfer, Lys