Prevalence of mitochondrial gene mutations among hearing impaired patients

J Med Genet. 2000 Jan;37(1):38-40. doi: 10.1136/jmg.37.1.38.

Abstract

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.

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aminoglycosides
  • Anti-Bacterial Agents / adverse effects
  • Cochlear Implantation
  • DNA, Mitochondrial / blood
  • DNA, Mitochondrial / genetics*
  • Hearing Loss, Sensorineural / chemically induced
  • Hearing Loss, Sensorineural / genetics*
  • Hearing Loss, Sensorineural / surgery
  • Humans
  • Japan
  • Point Mutation*
  • Polymorphism, Restriction Fragment Length*

Substances

  • Aminoglycosides
  • Anti-Bacterial Agents
  • DNA, Mitochondrial