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

Sudo, A.; Takeichi, N.; Hosoki, K. et al.

Journal of Laryngology & Otology, 2011, 125(12), 1282-1285

Permalink : https://hdl.handle.net/2115/50777

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アクセス権
open access
URI
https://hdl.handle.net/2115/50777
タイトル
Successful cochlear implantation in a patient with mitochondrial hearing loss and m.625G > A transition
著者
Sudo, A. ; Takeichi, N. ; Hosoki, K. ; Saitoh, S.
著者名
Sudo, A.
著者名
Takeichi, N.
著者名
Hosoki, K.
e-Rad_Researcher
00281824
著者名
Saitoh, S.
言語
英語
キーワード
Sensorineural Hearing Loss
Cochlear Implantation
Mitochondrial DNA
発行日
2011-12
出版者
Cambridge University Press
収録物名
Journal of Laryngology & Otology
巻(号)
125(12)
ページ
1282-1285
抄録
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.
資源タイプ
学術雑誌論文
出版タイプ
Version of Record
権利情報
©JLO (1984) Limited, 2011
PISSN
0022-2151
関連情報
URI
http://journals.cambridge.org/action/displayJournal?jid=JLO
関連情報 (isIdenticalTo)
出版社版DOI
https://doi.org/10.1017/S0022215111002453