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

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Feb 10;34(1):128-132. doi: 10.3760/cma.j.issn.1003-9406.2017.01.030.
[Article in Chinese]

Abstract

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.

Publication types

  • Review

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Genetic Predisposition to Disease / genetics
  • Hearing Loss / genetics*
  • Humans
  • Mitochondrial Proteins / biosynthesis
  • Mitochondrial Proteins / genetics
  • Mutation*
  • Nucleic Acid Conformation
  • RNA / chemistry
  • RNA / genetics*
  • RNA, Mitochondrial
  • RNA, Transfer, Ser / chemistry
  • RNA, Transfer, Ser / genetics*

Substances

  • Mitochondrial Proteins
  • RNA, Mitochondrial
  • RNA, Transfer, Ser
  • RNA