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Titolo:
Hearing loss with a mitochondrial gene mutation is highly prevalent in Japan
Autore:
Oshima, T; Ueda, N; Ikeda, K; Abe, K; Takasaka, T;
Indirizzi:
Tohokupaniv, Sch Med, Dept Otolaryngol, Aoba Ku, Sendai, Miyagi 9808574, Ja Tohoku Univ Sendai Miyagi Japan 9808574 ba Ku, Sendai, Miyagi 9808574, Ja Tohoku Univ, Sch Med, Dept Neurol, Aoba Ku, Sendai, Miyagi 9808574, Japan Tohoku Univ Sendai Miyagi Japan 9808574 Ku, Sendai, Miyagi 9808574, Japan
Titolo Testata:
LARYNGOSCOPE
fascicolo: 2, volume: 109, anno: 1999,
parte:, 1
pagine: 334 - 338
SICI:
0023-852X(199902)109:2<334:HLWAMG>2.0.ZU;2-E
Fonte:
ISI
Lingua:
ENG
Soggetto:
POINT MUTATION; DIABETES-MELLITUS; DNA; DEAFNESS; MELAS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
12
Recensione:
Indirizzi per estratti:
Indirizzo: Oshima, T TohokuMiyagi Sch Med, Dept Otolaryngol, Aoba Ku, 1-1 Seiryo Machi, Sendai, Tohoku Univ 1-1 Seiryo Machi Sendai Miyagi Japan 9808574 Sendai,
Citazione:
T. Oshima et al., "Hearing loss with a mitochondrial gene mutation is highly prevalent in Japan", LARYNGOSCOP, 109(2), 1999, pp. 334-338

Abstract

Objectives/Hypothesis: Mutations in the mitochondrial genome may predispose people to sensorineural hearing loss. An adenine to guanine point mutation in the tRNA(Leu(UUR)) gene at nucleotide 3,243 is one of the deaf-relatedmutations. This mutation is reported to be associated with 0.9% of diabetes mellitus patients. However, the prevalence of this mutation in hearing-impaired patients still remains unknown. The aim of this study was to determine the prevalence of this mutation among bilaterally sensorineural hearing-impaired patients in Japan. Study Design: Retrospective survey of 100 patients with bilateral sensorineural hearing loss without any evident causes. Methods: Mitochondrial DNA fragments from the patients were amplified by polymerase chain reaction, followed by a restriction enzyme fragment length polymorphism method. Results: Three patients with this mutation were identified. Their clinical profiles were different from the category which had beenconsidered as hearing loss caused by this mitochondrial gene mutation. Conclusions: The mutation is associated with approximately 3% of bilateral sensorineural hearing loss cases of unknown origin and is possibly distributedwidely in sensorineural hearing-impaired patients in Japan.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/01/20 alle ore 16:05:48