J Med Genet

HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS REGISTER
[Advanced]

This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this link to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Add article to my folders
Right arrow Download to citation manager
Right arrowRequest Permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Usami, S.-i.
Right arrow Articles by Komune, S.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Usami, S.-i.
Right arrow Articles by Komune, S.
J Med Genet 2000;37:38-40 ( January )

Prevalence of mitochondrial gene mutations among hearing impaired patients

Shin-ichi Usamia, Satoko Abea, Jiro Akitaa, Atsushi Nambaa, Hideichi Shinkawaa, Masanori Ishiib, Satoshi Iwasakic, Tomoyuki Hoshinoc, Juichi Itod, Katsumi Doie, Takeshi Kuboe, Takashi Nakagawaf, Sohtaro Komiyamaf, Tetsuya Tonog, Shizuo Komuneg

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, 1555Aright-arrowG, 3243Aright-arrowG, and 7445Aright-arrowG, 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 1555Aright-arrowG 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 3243Aright-arrowG mutation, but no outpatients had the 7445Aright-arrowG mutation and neither were found in the cochlear implantation group. The significance of the 1555Aright-arrowG 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



This article has been cited by other articles:


Home page
BMJHome page
M. Bitner-Glindzicz and S. Rahman
Ototoxicity caused by aminoglycosides
BMJ, October 20, 2007; 335(7624): 784 - 785.
[Full Text] [PDF]


Home page
Diabetes CareHome page
R. G. Whittaker, A. M. Schaefer, R. McFarland, R. W. Taylor, M. Walker, and D. M. Turnbull
Diabetes and Deafness: Is it sufficient to screen for the mitochondrial 3243A>G mutation alone?
Diabetes Care, September 1, 2007; 30(9): 2238 - 2239.
[Full Text] [PDF]


Home page
J. Mol. Diagn.Home page
K. Siemering, S. S.M. Manji, W. M. Hutchison, D. Du Sart, D. Phelan, and H.-H. M. Dahl
Detection of Mutations in Genes Associated with Hearing Loss Using a Microarray-Based Approach
J. Mol. Diagn., September 1, 2006; 8(4): 483 - 489.
[Abstract] [Full Text] [PDF]


Home page
Hum Reprod UpdateHome page
L.J.A.M. Jacobs, G. de Wert, J.P.M. Geraedts, I.F.M. de Coo, and H.J.M. Smeets
The transmission of OXPHOS disease and methods to prevent this
Hum. Reprod. Update, March 1, 2006; 12(2): 119 - 136.
[Abstract] [Full Text] [PDF]


Home page
J. Med. Genet.Home page
R Li, J H Greinwald Jr, L Yang, D I Choo, R J Wenstrup, and M-X Guan
Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss
J. Med. Genet., August 1, 2004; 41(8): 615 - 620.
[Full Text] [PDF]


Home page
J. Med. Genet.Home page
F J del Castillo, M Rodriguez-Ballesteros, Y Martin, B Arellano, J Gallo-Teran, C Morales-Angulo, R Ramirez-Camacho, M Cruz Tapia, J Solanellas, A Martinez-Conde, et al.
Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss
J. Med. Genet., August 1, 2003; 40(8): 632 - 636.
[Full Text]


Home page
J. Med. Genet.Home page
F J del Castillo, M Villamar, M A Moreno-Pelayo, J J Almela, C Morera, I Adiego, F Moreno, and I del Castillo
Maternally inherited non-syndromic hearing impairment in a Spanish family with the 7510T>C mutation in the mitochondrial tRNASer(UCN) gene
J. Med. Genet., December 1, 2002; 39(12): e82 - 82.
[Full Text] [PDF]


Home page
Br Med BullHome page
M. Bitner-Glindzicz
Hereditary deafness and phenotyping in humans
Br. Med. Bull., October 1, 2002; 63(1): 73 - 94.
[Abstract] [Full Text] [PDF]


Home page
Arch Intern MedHome page
B. Spellberg, R. M. Carroll, E. Robinson, and E. Brass
mtDNA Disease in the Primary Care Setting
Arch Intern Med, November 12, 2001; 161(20): 2497 - 2500.
[Abstract] [Full Text] [PDF]


Home page
J. Med. Genet.Home page
T P Hutchin, K R Thompson, M Parker, V Newton, M Bitner-Glindzicz, and R F Mueller
Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairment
J. Med. Genet., April 1, 2001; 38(4): 229 - 231.
[Abstract] [Full Text]




HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS REGISTER
Terms and conditions relating to subscriptions purchased online  ¦  Website terms and conditions  ¦  Privacy policy
Copyright © 2000 by the BMJ Publishing Group Ltd.