Hostname: page-component-6766d58669-88psn Total loading time: 0 Render date: 2026-05-18T19:23:17.197Z Has data issue: false hasContentIssue false
  • English
  • Français

Role of mitochondrial variation in maternally inherited diabetes and deafness syndrome

Published online by Cambridge University Press:  24 October 2008

T Howes ,
C Madden ,
S Dasgupta ,
S Saeed  and
V Das
T Howes
Affiliation:
University Department of Audiological Medicine, Manchester Royal Infirmary, UK
C Madden
Affiliation:
University Department of Audiological Medicine, Manchester Royal Infirmary, UK
S Dasgupta
Affiliation:
University Department of Audiological Medicine, Manchester Royal Infirmary, UK
S Saeed
Affiliation:
University Department of Otolaryngology – Head and Neck Surgery, Manchester Royal Infirmary, UK
V Das*
Affiliation:
University Department of Audiological Medicine, Manchester Royal Infirmary, UK
*
Address for correspondence: Dr Vijay Das, University Department of Audiological Medicine, Manchester Royal Infirmary, Manchester M13 9WL, UK. Fax: +44 (0)161 276 5953 E-mail: Vijay.das@cmmc.nhs.uk
Get access Rights & Permissions [Opens in a new window]

Abstract

Maternally inherited diabetes and deafness syndrome is caused by the mitochondrial deoxyribonucleic acid mutation 3243 A>G (where A = adenine and G = guanine). The degree of heteroplasmy of the mitochondrial deoxyribonucleic acid may correlate with the rate of progression of the hearing loss. This has important implications for counselling patients with this pathology. Cochlear implantation is a successful method of rehabilitation for patients with hearing loss as part of this syndrome.

Keywords

Sensorineural Hearing LossCochlear ImplantationMitochondrial DNAMIDDHeteroplasmy

Information

Type
Clinical Records
Information
The Journal of Laryngology & Otology , Volume 122 , Issue 11 , November 2008 , pp. 1249 - 1252
Copyright
Copyright © JLO (1984) Limited 2008

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

Article purchase

Temporarily unavailable

References

1 Robinson, K, Gatehouse, S, Browning, G. Measuring patient benefit from otorhinolaryngological surgery and therapy. Ann Otol Rhinol Laryngol 1996;105:415–22CrossRefGoogle ScholarPubMed
2 Ballinger, SW, Shoffner, JM, Hedaya, EV, Trounce, I, Polak, MA, Koontz, DA. Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion. Nat Genet 1992;1:11–15CrossRefGoogle ScholarPubMed
3 Majamaa, K, Moilanen, JS, Uimonen, S, Remes, AM, Salmela, PI, Karppa, M et al. Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. Am J Hum Genet 1998;63:447–54CrossRefGoogle Scholar
4 Usami, S, Abe, S, Akita, J, Namba, A, Shinkawa, H, Ishii, M et al. Prevalence of mitochondrial gene mutations among hearing impaired patients. J Med Genet 2000;37:38–40CrossRefGoogle ScholarPubMed
5 Nagata, H, Kunahara, K, Tomemori, T, Arimoto, Y, Isoyama, K, Yoshida, K et al. Frequency and clinical features of patients with sensorineural hearing loss associated with the A3243G mutation of the mitochondrial DNA in otorhinolaryngic clinics. J Hum Genet 2001;46:595–9CrossRefGoogle ScholarPubMed
6 Goto, Y, Nonaka, I, Horai, S. A mutation in the tRNA-leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990;348:651–3CrossRefGoogle ScholarPubMed
7 Van den Ouweland, JMW, Lemkes, HHPJ, Ruitenbeek, W, Sandkujil, LA, de Vijlder, MF, Struyvenberg, PAA et al. Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nature Genet 1992;1:368–71CrossRefGoogle Scholar
8 Uimonen, S, Moilanen, JS, Sorri, M, Hassinen, IE, Majamaa, K. Hearing impairment in patients with 3243 A>G mtDNA mutation: phenotype and rate of progression. Hum Genet 2001;108:284–9CrossRefGoogle Scholar
9 Majamaa-Voltti, KA, Winqvist, S, Remes, AM, Tolonen, U, Pyhtinen, J, Uimonen, S. A 3-year clinical follow-up of adult patients with 3243 A>G in mitochondrial DNA. Neurology 2006;66:1470–5CrossRefGoogle Scholar
10 Yamasoba, T, Oka, Y, Tsukuda, K, Nakamura, M, Kaga, K. Auditory findings in patients with maternally inherited diabetes and deafness harbouring a point mutation in the mitochondrial transfer RNALeu(UUR) gene. Laryngoscope 1996;106:49–53CrossRefGoogle Scholar
11 Oshima, T, Ueda, N, Ikeda, K, Abe, K, Takasaka, T. Bilateral sensorineural hearing loss associated with the point mutation in mitochondrial genome. Laryngoscope 1996;106:43–8CrossRefGoogle ScholarPubMed
12 Yamasoba, T, Tsukada, K, Oka, Y, Kobayashi, T, Kaga, K. Cochlear histopathology associated with mitochondrial transfer RNALeu(URR) gene mutation. Neurology 1999;52:1705–7CrossRefGoogle Scholar
13 Cortopassi, G, Hutchin, T. A molecular and cellular hypothesis for aminoglycoside-induced deafness. Hear Res 1994;78:27–30CrossRefGoogle ScholarPubMed
14 Guillausseau, JP, Massin, P, Dubois-LaForgue, D, Timsit, J, Virally, M, Gin, H. Maternally inherited diabetes and deafness: a multicenter study. Ann Int Med 2001;134:721–8CrossRefGoogle ScholarPubMed
15 Remes, AM, Majamaa, K, Herva, R, Hassinen, IE. Adult-onset diabetes mellitus and neurosensory hearing loss in maternal relatives of MELAS patients in a family with the tRNA(Leu(VVR)) mutation. Neurology 1993;35:1015–20Google Scholar
16 Hill, D, Wintersgill, S, Stott, L, Cadge, B, Graham, J. Cochlear implantation in a profoundly deaf patient with MELAS syndrome. J Neurol Neurosurg Psychiatry 2001;71:281CrossRefGoogle Scholar
17 Counter, PR, Hilton, MP, Webster, D, Wardell, T, Taylor, RW, Besley, G et al. Cochlear implantation of a patient with a previously undescribed mitochondrial DNA defect. J Laryngol Otol 2001;115:730–2Google Scholar
18 Raut, V, Sinnathuray, AR, Toner, JG. Cochlear implantation in MIDD syndrome. J Laryngol Otol 2002;116:373–5CrossRefGoogle Scholar