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

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Title: Successful cochlear implantation in a patient with mitochondrial hearing loss and m.625G > A transition
Authors: Sudo, A. Browse this author
Takeichi, N. Browse this author
Hosoki, K. Browse this author
Saitoh, S. Browse this author →KAKEN DB
Keywords: Sensorineural Hearing Loss
Cochlear Implantation
Mitochondrial DNA
Issue Date: Dec-2011
Publisher: Cambridge University Press
Journal Title: Journal of Laryngology & Otology
Volume: 125
Issue: 12
Start Page: 1282
End Page: 1285
Publisher DOI: 10.1017/S0022215111002453
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.
Rights: ©JLO (1984) Limited, 2011
Type: article
Appears in Collections:北海道大学病院 (Hokkaido University Hospital) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

Submitter: 齋藤 伸治

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