Prevalence of mitochondrial gene mutations among hearing impaired patients

Shin Ichi Usami, Katsumi Doi, Takeshi Kubo, Takashi Nakagawa, Sohtaro Komiyama, Tetsuya Tono, Shizuo Komune, Satoko Abe, Jiro Akita, Atsushi Namba, Hideichi Shinkawa, Masanori Ishii, Satoshi Iwasaki, Tomoyuki Hoshino, Juichi Ito

Research output: Contribution to journalArticlepeer-review

165 Citations (Scopus)


The frequency of three mitochondrial point mutations, 1555A→G, 3243A→G, and 7445A→G, known to be associated with hearing impairment, was examined using restriction fragment length polymorphism (RFLP) analysis in two Japanese groups: (1) 319 unrelated SNHL outpatients (including 21 with aminoglycoside antibiotic injection history), and (2) 140 cochlear implantation patients (including 22 with aminoglycoside induced hearing loss). Approximately 3% of the outpatients and 10% of the cochlear implantation patients had the 1555A→G mutation. The frequency was higher in the patients with a history of aminoglycoside injection (outpatient group 33%, cochlear implantation group 59%). One outpatient (0.314%) had the 3243A→G mutation, but no outpatients had the 7445A→G mutation and neither were found in the cochlear implantation group. The significance of the 1555A→G mutation, the most prevalent mitochondrial mutation found in this study of a hearing impaired population in Japan, among subjects with specific backgrounds, such as aminoglycoside induced hearing loss, is evident.

Original languageEnglish
Pages (from-to)38-40
Number of pages3
JournalJournal of medical genetics
Issue number1
Publication statusPublished - 2000

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


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