Prevalence of mitochondrial gene mutations among hearing impaired patients. Issue 1 (1st January 2000)

• Record Type: Journal Article
• Authors: Usami, Shin-ichi; Abe, Satoko; Akita, Jiro; Namba, Atsushi; Shinkawa, Hideichi; Ishii, Masanori; Iwasaki, Satoshi; Hoshino, Tomoyuki; Ito, Juichi; Doi, Katsumi; Kubo, Takeshi; Nakagawa, Takashi; Komiyama, Sohtaro; Tono, Tetsuya; Komune, Shizuo
• Is Part Of: Journal of medical genetics. Volume 37:Issue 1(2000)
• Page Start: 38
• Page End: 40
• Publication Date: 2000-01-01
• Subjects: mitochondria -- point mutation -- hearing impairment -- frequencies; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.37.1.38
• Languages: English
• ISSNs: 1468-6244

Abstract

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.