Oshima T, Ueda N, Ikeda K, Abe K, Takasaka T
Department of Otolaryngology, Tohoku University School of Medicine, Sendai, Japan.
Laryngoscope. 1999 Feb;109(2 Pt 1):334-8. doi: 10.1097/00005537-199902000-00029.
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.
Retrospective survey of 100 patients with bilateral sensorineural hearing loss without any evident causes.
Mitochondrial DNA fragments from the patients were amplified by polymerase chain reaction, followed by a restriction enzyme fragment length polymorphism method.
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.
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.
目的/假设：线粒体基因组突变可能使人们易患感音神经性听力损失。位于3243位核苷酸处的tRNA（Leu（UUR））基因中的腺嘌呤到鸟嘌呤点突变是与耳聋相关的突变之一。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患病率仍然未知。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。
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。
通过聚合酶链反应扩增患者的线粒体DNA片段，随后采用限制性酶切片段长度多态性方法。
鉴定出3例携带这种突变的患者。他们的临床特征与被认为是由这种线粒体基因突变引起的听力损失类型不同。
这种突变与约3%病因不明的双侧感音神经性听力损失病例有关，并且可能在日本的感音神经性听力受损患者中广泛分布。
