A novel mitochondrial mutation, 1556C→T, in a Japanese patient with streptomycin-induced tinnitus

Objective Aminoglycoside antibiotics are associated with ototoxicity. The 1555A→G mutation in the 12S ribosomal RNA gene of mitochondrial DNA has been considered to be associated with susceptibility to aminoglycoside antibiotics. In this study we examined a 79-year-old Japanese patient with a 45-yea...

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Veröffentlicht in:Acta oto-laryngologica 2004-03, Vol.124 (3), p.258-261
Hauptverfasser: Tanimoto, Hitoshi, Nishio, Hisahide, Matsuo, Masafumi, Nibu, Ken-Ichi
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Sprache:eng
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Zusammenfassung:Objective Aminoglycoside antibiotics are associated with ototoxicity. The 1555A→G mutation in the 12S ribosomal RNA gene of mitochondrial DNA has been considered to be associated with susceptibility to aminoglycoside antibiotics. In this study we examined a 79-year-old Japanese patient with a 45-year history of streptomycin-induced tinnitus in an attempt to find a mitochondrial mutation. Materials and Methods DNA was extracted from the patient's leukocytes. Polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) screening for the 1555A→G mutation was done in order to detect a mitochondrial mutation and then nucleotide sequencing analysis was performed to identify the mutation. Results PCR-RFLP screening detected the presence of a mitochondrial mutation in the patient. However, the nucleotide sequencing analysis showed that the mutation was not the 1555A→G mutation but a novel mutation, 1556C→T. The mutation was not found in 112 unrelated Japanese control subjects, suggesting that the mutation was specific to our patient. Conclusions The 1556C→T mutation may be a genetic risk factor for aminoglycoside-induced hearing impairment. Our result also suggests that patients with the 1556C→T mutation exist among those expected to have the 1555A→G mutation as a result of PCR-RFLP analysis.
ISSN:0001-6489
1651-2251
DOI:10.1080/00016480310015740