Mutations of mitochondrial tRNASer(UCN) and their connection with hearing loss].

Wenlu Fan, Xiaowen Tang, Binjiao Zheng, Minxin Guan, Ling Xue

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2017 Feb 10

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Mitochondrial tRNASer(UCN) gene mutation is closely related to acoustic nerve deafness. Some mutations can affect the structure and transcriptional processing of tRNASer(UCN), for instance m.7444G>A mutation in tRNASer(UCN) precursor 3' side, m.7472 insC as well as m.7511T>C mutations in the stem and ring of tRNASer(UCN), may influence tRNASer(UCN) stability, thus affect the synthesis of mitochondrial peptides, reduce the production of ATP and cause deafness. This article focuses on mitochondrial tRNASer(UCN) gene mutations as well as the mechanism underlying hearing loss.

Citation

Wenlu Fan, Xiaowen Tang, Binjiao Zheng, Minxin Guan, Ling Xue. Mutations of mitochondrial tRNASer(UCN) and their connection with hearing loss]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2017 Feb 10;34(1):128-132