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Successful cochlear implantation in a patient with mitochondrial hearing loss and m.625G>A transition

Published online by Cambridge University Press:  14 September 2011

A Sudo*
Affiliation:
Department of Pediatrics, Sapporo City General Hospital, Sapporo, Japan
N Takeichi
Affiliation:
Department of Otolaryngology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
K Hosoki
Affiliation:
Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan
S Saitoh
Affiliation:
Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan
*
Address for correspondence: Dr A Sudo, Department of Pediatrics, Sapporo City General Hospital, Kita 11, Nishi 13, Chuo-ku, Sapporo 060-8604, Japan Fax: +81 11 726 7912 E-mail: akira.sudo@doc.city.sapporo.jp

Abstract

Objective:

We present a patient with mitochondrial hearing loss and a novel mitochondrial DNA transition, who underwent successful cochlear implantation.

Case report:

An 11-year-old girl showed epilepsy and progressive hearing loss. Despite the use of hearing aids, she gradually lost her remaining hearing ability. Laboratory data revealed elevated lactate levels, indicating mitochondrial dysfunction. Magnetic resonance imaging showed diffuse, mild brain atrophy. Cochlear implantation was performed, and the patient's hearing ability was markedly improved. Whole mitochondrial DNA genome analysis revealed a novel heteroplasmic mitochondrial 625G>A transition in the transfer RNA gene for phenylalanine. This transition was not detected in blood DNA from the patient's mother and healthy controls. Mitochondrial respiratory chain activities in muscle were predominantly decreased in complex III.

Conclusion:

This case indicates that cochlear implantation can be a valuable therapeutic option for patients with mitochondrial syndromic hearing loss.

Type
Clinical Records
Copyright
Copyright © JLO (1984) Limited 2011

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Footnotes

Abstract presented at the 9th Conference of the Japanese Society of Mitochondrial Research and Medicine, 18 December 2009, Tokyo, Japan

References

1Sinnathuray, AR, Raut, V, Awa, A, Magee, A, Toner, JG. A review of cochlear implantation in mitochondrial sensorineural hearing loss. Otol Neurotol 2003;24:418–26CrossRefGoogle ScholarPubMed
2Rahman, S, Blok, RB, Dahl, H-HM, Danks, DM, Kirby, DM, Chow, CW et al. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol 1996;39:345–51CrossRefGoogle ScholarPubMed
3Bernier, FP, Boneh, A, Dennett, X, Chow, CW, Cleary, MA, Thorburn, DR. Diagnostic criteria for respiratory chain disorders in adults and children. Neurology 2002;59:1406–11CrossRefGoogle ScholarPubMed
4Rosenthal, EL, Kileny, PR, Boerst, A, Telian, SA. Successful cochlear implantation in a patient with MELAS syndrome. Am J Otol 1999;20:187–91Google Scholar
5Karkos, PD, Anari, S, Johnson, IJ. Cochlear implantation in patients with MELAS syndrome. Eur Arch Otorhinolaryngol 2005;262:322–4CrossRefGoogle ScholarPubMed
6Sue, CM, Lipsett, LJ, Crimmins, DS, Tsang, CS, Boyages, SC, Presgrave, CM. Cochlear origin of hearing loss in MELAS syndrome. Ann Neurol 1998;43:350–9CrossRefGoogle ScholarPubMed
7Yamasoba, T, Tsukuda, K, Oka, Y, Kobayashi, T, Kaga, K. Cochlear histopathology associated with mitochondrial transfer RNALeu(UUR) gene mutation. Neurology 1999;52:1705–7CrossRefGoogle Scholar
8Yamasoba, T, Goto, Y-I, Komaki, H, Mimaki, M, Sudo, A, Suzuki, M. Cochlear damage due to germanium-induced mitochondrial dysfunction in guinea pigs. Neurosci Lett 2006;395:1822CrossRefGoogle ScholarPubMed
9Papsin, BC, Gordon, KA. Cochlear implants for children with severe-to-profound hearing loss. N Engl J Med 2007;357:2380–7CrossRefGoogle ScholarPubMed
10mtDNA Coding Region Sequence Polymorphism. In: http://www.mitomap.org/bin/view/MITOMAP/PolymorphismsCoding [6 August 2011]Google Scholar
11Deschauer, M, Swalwell, H, Strauss, M, Zierz, S, Taylor, RW. Novel mitochondrial transfer RNA (Phe) gene mutation associated with late-onset neuromuscular disease. Arch Neurol 2006;63:902–5CrossRefGoogle ScholarPubMed
12Mancuso, M, Filosto, M, Mootha, VK, Rocchi, A, Pistolesi, S, Murri, L. A novel mitochondrial tRNAPhe mutation causes MERRF syndrome. Neurology 2004;62:2119–21CrossRefGoogle ScholarPubMed
13Konings, A, Van Camp, G, Goethals, A, Eyken, EV, Vandevelde, A, Azza, JB et al. Mutation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients. Mitochondrion 2008;8:377–82CrossRefGoogle ScholarPubMed
14Valente, L, Piga, D, Lamantea, E, Carrara, F, Uziel, G, Cudia, P et al. Identification of novel mutations in five patients with mitochondrial encephalomyopathy. Biochim Biophys Acta 2009;1787:491501CrossRefGoogle ScholarPubMed
15Kleinle, S, Schneider, V, Moosmann, P, Brandner, S, Krähenbühl, S, Liechti-Gallati, S. A novel mitochondrial tRNAPhe mutation inhibiting anticodon stem formation associated with a muscle disease. Biochem Biophys Res Commun 1998;247:112–15CrossRefGoogle ScholarPubMed
16Darin, N, Kollberg, G, Moslemi, AR, Tulinius, M, Holme, E, Grönlund, MA et al. Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNA(phe)gene. Neuromuscul Disord 2006;16:504–6CrossRefGoogle Scholar