Mutations of mitochondrial tRNAand their connection with hearing loss.
10.3760/cma.j.issn.1003-9406.2017.01.030
- VernacularTitle:线粒体tRNASer(UCN)突变及其致聋机制的研究
- Author:
Wenlu FAN
1
;
Xiaowen TANG
;
Binjiao ZHENG
;
Minxin GUAN
;
Ling XUE
Author Information
1. Attardi Institute of Mitochondrial Biomedicine, Wenzhou Medical University, Wenzhou, Zhejiang 325035, China. docxl2008@163.com.
- Publication Type:Journal Article
- MeSH:
Amino Acid Sequence;
Base Sequence;
Genetic Predisposition to Disease;
genetics;
Hearing Loss;
genetics;
Humans;
Mitochondrial Proteins;
biosynthesis;
genetics;
Mutation;
Nucleic Acid Conformation;
RNA;
chemistry;
genetics;
RNA, Transfer, Ser;
chemistry;
genetics
- From:
Chinese Journal of Medical Genetics
2017;34(1):128-132
- CountryChina
- Language:Chinese
-
Abstract:
Mitochondrial tRNAgene mutation is closely related to acoustic nerve deafness. Some mutations can affect the structure and transcriptional processing of tRNA, for instance m.7444G>A mutation in tRNAprecursor 3' side, m.7472 insC as well as m.7511T>C mutations in the stem and ring of tRNA, may influence tRNAstability, thus affect the synthesis of mitochondrial peptides, reduce the production of ATP and cause deafness. This article focuses on mitochondrial tRNAgene mutations as well as the mechanism underlying hearing loss.
