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Prevalence of the mitochondrial 1555 A>G and 1494 C>T mutations in a community-dwelling population in Japan
Human Genome Variation Pub Date : 2020-09-18 , DOI: 10.1038/s41439-020-00115-9
Yasunori Maeda 1 , Akira Sasaki 1 , Shuya Kasai 2 , Shinichi Goto 1 , Shin-Ya Nishio 3, 4 , Kaori Sawada 5 , Itoyo Tokuda 5 , Ken Itoh 2 , Shin-Ichi Usami 3, 4 , Atsushi Matsubara 1
Affiliation  

Single nucleotide polymorphisms in mitochondrial DNA, such as mitochondrial 1555 A>G (m.1555 A>G) and mitochondrial 1494 C>T (m.1494 C>T), are known to be causative mutations of nonsyndromic hearing loss following exposure to aminoglycoside antibiotics. The prevalence of the m.1555 A>G and m.1494 C>T mutations has not been reported for the general population in Japan. The purpose of this study was to investigate the prevalence of m.1555 A>G and m.1494 C>T mutations in a community-dwelling population in Japan in order to prevent aminoglycoside-induced hearing loss. We recruited participants older than 20 years of age to the Iwaki Health Promotion Project in 2014, 2015, and 2016, resulting in the recruitment of 1,683 participants. For each participant, we performed a hearing test and a genetic test for the m.1555 A>G and m.1494 C>T mutations using the TaqMan genotyping method. The m.1555 A>G mutation was detected in only 1 of the 1,683 participants (0.06%). This carrier of the m.1555 A>G mutation was a 69-year-old male with bilateral, symmetric, and high-frequency hearing loss. We provided genetic counseling and distributed a drug card advising him to avoid the administration of aminoglycoside antibiotics. In contrast, the m.1494 C>T mutation was not detected in this study population.



中文翻译:

线粒体1555 A> G和1494 C> T突变在日本社区居民中的患病率

线粒体DNA中的单核苷酸多态性,例如线粒体1555 A> G(m.1555 A> G)和线粒体1494 C> T(m.1494 C> T),是暴露于非综合征性听力损失的致病突变氨基糖苷类抗生素。在日本普通人群中尚未报告m.1555 A> G和m.1494 C> T突变的患病率。本研究的目的是调查日本社区居民中m.1555 A> G和m.1494 C> T突变的发生率,以预防氨基糖苷类引起的听力损失。我们在2014年,2015年和2016年招募了20岁以上的磐城健康促进项目参与者,招募了1,683名参与者。对于每个参与者,我们对m.1555 A> G和m进行了听力测试和基因测试。使用TaqMan基因分型方法的1494个C> T突变。在1,683名参与者中只有1名检测到m.1555 A> G突变(占0.06%)。m.1555 A> G突变的携带者是一位69岁的男性,患有双侧,对称和高频听力损失。我们提供了遗传咨询,并分发了一张药品卡,建议他避免使用氨基糖苷类抗生素。相反,在该研究人群中未检测到m.1494 C> T突变。我们提供了遗传咨询,并分发了一张药品卡,建议他避免使用氨基糖苷类抗生素。相反,在该研究人群中未检测到m.1494 C> T突变。我们提供了遗传咨询,并分发了一张药品卡,建议他避免使用氨基糖苷类抗生素。相反,在该研究人群中未检测到m.1494 C> T突变。

更新日期:2020-09-20
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