Mitochondrion:887名中国听力损失患者中的线粒体tRNA变异分析

2020-03-26 AlexYang MedSci原创

线粒体tRNA变异是听力损失的重要诱因。然而,到目前为止只鉴定了一部分案例,且线粒体tRNA变异在听力损伤患者中的患病率仍旧不清楚。

线粒体tRNA变异是听力损失的重要诱因。然而,到目前为止只鉴定了一部分案例,且线粒体tRNA变异在听力损伤患者中的患病率仍旧不清楚。

最近,有研究人员在一个包括887名汉族听力损失患者群体中利用Sanger测序的方法对22个线粒体tRNA进行了变异分析。另外,研究人员通过对对照组(<1%)频率、系统发育分析、结构分析和功能预测,进一步对假定的致病性变异进行系统评估。研究发现,22个tRNA中共存在147个变异。其中,39个tRNA变异(10个致病,29个可能致病)在773名对照群体中存在的频率小于1%,且为高度保守核苷酸或者改变了修饰后的核苷酸。这些变异具有结构变异的可能性且具有功能意义,因此考虑作为耳聋相关的变异。更多的是,44名参与者(4.96%)中携带者39个变异中的一个。然而,携带这些tRNA变异家系的听力损失的表型变异和不完全外显性表明了一些修饰因子的存在,比如与线粒体生物发生有关的核编码基因、线粒体单倍型、表观遗传和环境因素等。因此,他们的数据为线粒体tRNA变异是听力损失的重要诱因提供了证据。

最后,研究人员指出,他们的发现进一步增加了线粒体基因组tRNA变异的临床相关性,并且对阐释母系听力损失致病机制有帮助。

原始出处:

Zheng J, Bai X, Xiao Y et al. Mitochondrial tRNA mutations in 887 Chinese Subjects with Hearing Loss. Mitochondrion. 10 Mar 2020.

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    2020-06-10 gracezdd
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    2020-03-28 ysjykql
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    2020-03-28 liao1622

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