Hearing loss with a mitochondrial gene mutation is highly prevalent in japan

Takeshi Ohshima, Narihisa Ueda, Katsuhisa Ikeda, Koji Abe, Tomonori Takasaka

研究成果: Article査読

19 被引用数 (Scopus)


Objectives/Hypothesis:Mutations in the mitochondrial genome may predispose people to sensorineural hearing loss. An adenine to guanine point mutation in the tRNALeu(UUR) gene at nucleotide 3,243 is one of the deaf-related mutations. 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 been considered 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 distributed widely in sensorineural hearing-impaired patients in Japan.

出版ステータスPublished - 1999 1月 1

ASJC Scopus subject areas

  • 耳鼻咽喉科学


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