Screening of the mitochondrial A1555G mutation in patients with sensorineural hearing loss

Braz J Otorhinolaryngol. 2008 Sep-Oct;74(5):731-736. doi: 10.1016/S1808-8694(15)31384-7.


The A1555G mitochondrial mutation is the main alteration associated with aminoglycoside-induced deafness.

Aim: to investigate the prevalence of the A1555G mutation in patients sensorineural hearing loss patients with and without aminoglycosides antibiotic use.

Material and method: a study of 27 cases with deafness as the sample, and 100 neonates with normal hearing as the control group. DNA was extracted from blood leukocyte samples, and specific oligonucleotide primers were designed to amplify the cytochrome b gene and the region which encloses the A1555G mutation of the mitocondrial DNA using the polymerase chain reaction and restriction fragment length polymorphism.

Design: a cross-sectional case study.

Results: a region of the cytochrome b gene was amplified and the presence of the mtDNA was confirmed in all of the 127 cases. The A1555G mutation was not found in any of the 27 patients with hearing loss or the control group with 100 neonates.

Conclusion: the results agree with studies stating that the A1555G mutation is not prevalent in the Americas. There is interest in establishing the real prevalence of this mutation and to investigate other mutations that may cause hearing loss, associated or not with the use of aminoglycosides, in the Brazilian population.

MeSH terms

  • Adult
  • Aminoglycosides / adverse effects*
  • Child
  • Child, Preschool
  • Cross-Sectional Studies
  • DNA, Mitochondrial / genetics*
  • Female
  • Genetic Testing / methods*
  • Hearing Loss, Sensorineural / chemically induced
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Male
  • Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length


  • Aminoglycosides
  • DNA, Mitochondrial