Hearing loss with a mitochondrial gene mutation is highly prevalent in Japan
Hearing loss with a mitochondrial gene mutation is highly prevalent in Japan
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DOI：
10.1097/00005537-199902000-00029
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发表时间：
1999-02-01
期刊：
影响因子：
2.6
通讯作者：
Takasaka, T
中科院分区：
文献类型：
--
作者：
Oshima, T;Ueda, N;Takasaka, T
目的/假设：线粒体基因组突变可能使人易患感音神经性听力损失。tRNA（Leu(UUR)）基因在核苷酸3243处的腺嘌呤到鸟嘌呤点突变是耳聋相关突变之一。据报道，这种突变与0.9%的糖尿病患者有关。然而，这种突变在听力受损患者中的流行程度仍然未知。本研究的目的是确定这种突变在日本双侧感音神经性听力受损患者中的患病率。研究设计：对100例无明显病因的双侧感音神经性听力损失患者进行回顾性调查。方法：采用聚合酶链反应扩增患者线粒体DNA片段，然后采用限制性内切酶片段长度多态性法。结果：鉴定出3例具有该突变的患者。他们的临床表现与被认为是由线粒体基因突变引起的听力损失的类别不同。结论：该突变与大约3%的不明原因双侧感音神经性听力损失病例有关，可能广泛分布于日本感音神经性听力受损患者中。
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-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.