Prevalence of mitochondrial gene mutations among hearing impaired patients
Open Access
- 1 January 2000
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 37 (1), 38-40
- https://doi.org/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.Keywords
This publication has 14 references indexed in Scilit:
- Rapid mass screening method and counseling for the 1555A?G mitochondrial mutationJournal of Human Genetics, 1999
- Cochlear implantation in a patient with profound hearing loss with the A1555G mitochondrial mutation.1998
- Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutationEuropean Journal of Human Genetics, 1998
- Isepamicin Sulfate-Induced Sensorineural Hearing Loss in Patients with the 1555 A→G Mitochondrial MutationORL, 1998
- Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness.1998
- Mitochondrial gene mutation is a significant predisposing factor in aminoglycoside ototoxicityAmerican Journal of Otolaryngology, 1997
- A Subtype of Diabetes Mellitus Associated with a Mutation of Mitochondrial DNANew England Journal of Medicine, 1994
- Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNAThe Lancet, 1992
- Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafnessNature Genetics, 1992
- A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathiesNature, 1990