J Med Genet 2000;37:38-40 ( January )

Prevalence of mitochondrial gene mutations among hearing impaired patients

Shin-ichi Usami^a, Satoko Abe^a, Jiro Akita^a, Atsushi Namba^a, Hideichi Shinkawa^a, Masanori Ishii^b, Satoshi Iwasaki^c, Tomoyuki Hoshino^c, Juichi Ito^d, Katsumi Doi^e, Takeshi Kubo^e, Takashi Nakagawa^f, Sohtaro Komiyama^f, Tetsuya Tono^g, Shizuo Komune^g

^a Department of Otorhinolaryngology, Hirosaki University School of Medicine, 5 Zaifu-cho, Hirosaki 036-8562, Japan, ^b Department of Otorhinolaryngology, Tokyo Kosei Nenkin Hospital, Tokyo 162, Japan, ^c Department of Otorhinolaryngology, Hamamatsu University School of Medicine, Hamamatsu 431-31, Japan, ^d Department of Otolaryngology, Otsu Red Cross Hospital, Otsu 520, Japan, ^e Department of Otolaryngology, Osaka University Faculty of Medicine, Suita 565-0871, Japan, ^f Department of Otorhinolaryngology, Faculty of Medicine, Kyushu University, Fukuoka 812-8582, Japan, ^g Department of Otorhinolaryngology, Miyazaki Medical College, Miyazaki 889-16, Japan

Correspondence to: Professor Usami, Department of Otorhinolaryngology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan

Revised version received 16 August 1999; Accepted for publication 27 August 1999

The frequency of three mitochondrial point mutations, 1555AG, 3243AG, and 7445AG, 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 1555AG 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 3243AG mutation, but no outpatients had the 7445AG mutation and neither were found in the cochlear implantation group. The significance of the 1555AG 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: mitochondria; point mutation; hearing impairment; frequencies

---

© 2000 by J Med Genet
CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

This article has been cited by other articles:

• Bitner-Glindzicz, M., Rahman, S. (2007). Ototoxicity caused by aminoglycosides. BMJ 335: 784-785 [Full Text]  
• Whittaker, R. G., Schaefer, A. M., McFarland, R., Taylor, R. W., Walker, M., Turnbull, D. M. (2007). Diabetes and Deafness: Is it sufficient to screen for the mitochondrial 3243A>G mutation alone?. Diabetes Care 30: 2238-2239 [Full Text]  
• Siemering, K., Manji, S. S.M., Hutchison, W. M., Du Sart, D., Phelan, D., Dahl, H.-H. M. (2006). Detection of Mutations in Genes Associated with Hearing Loss Using a Microarray-Based Approach. J. Mol. Diagn. 8: 483-489 [Abstract] [Full Text]  
• Jacobs, L.J.A.M., de Wert, G., Geraedts, J.P.M., de Coo, I.F.M., Smeets, H.J.M. (2006). The transmission of OXPHOS disease and methods to prevent this. Hum Reprod Update 12: 119-136 [Abstract] [Full Text]  
• Li, R, Greinwald, J H Jr, Yang, L, Choo, D I, Wenstrup, R J, Guan, M-X (2004). Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss. J. Med. Genet. 41: 615-620 [Full Text]  
• del Castillo, F J, Rodriguez-Ballesteros, M, Martin, Y, Arellano, B, Gallo-Teran, J, Morales-Angulo, C, Ramirez-Camacho, R, Cruz Tapia, M, Solanellas, J, Martinez-Conde, A, Villamar, M, Moreno-Pelayo, M A, Moreno, F, del Castillo, I (2003). Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss. J. Med. Genet. 40: 632-636 [Full Text]  
• del Castillo, F J, Villamar, M, Moreno-Pelayo, M A, Almela, J J, Morera, C, Adiego, I, Moreno, F, del Castillo, I (2002). Maternally inherited non-syndromic hearing impairment in a Spanish family with the 7510T>C mutation in the mitochondrial tRNASer(UCN) gene. J. Med. Genet. 39: e82-82 [Full Text]  
• Bitner-Glindzicz, M. (2002). Hereditary deafness and phenotyping in humans. Br Med Bull 63: 73-94 [Abstract] [Full Text]  
• Spellberg, B., Carroll, R. M., Robinson, E., Brass, E. (2001). mtDNA Disease in the Primary Care Setting. Arch Intern Med 161: 2497-2500 [Abstract] [Full Text]  
• Hutchin, T P, Thompson, K R, Parker, M, Newton, V, Bitner-Glindzicz, M, Mueller, R F (2001). Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairment. J. Med. Genet. 38: 229-231 [Abstract] [Full Text]