线粒体tRNASer(UCN)突变及其致聋机制的研究

摘要

线粒体tRNASer(UCN)基因突变与感音神经耳聋密切相关.tRNASer(UCN)基因上游部分的突变将影响tRNASer(UCN)结构以及转录后的加工,例如位于tRNASer(UCN)前体3'端的线粒体7444 G＞A等突变,以及位于tRNAser(UCN)二级结构茎以及环上的线粒体7472insC和7511T＞C等突变可改变tRNASer(UCN)的稳定性,进而影响线粒体内多肽的合成,降低ATP的产量,最终导致耳聋.本文主要讨论与耳聋相关的线粒体tRNASer(UCN)基因突变及其致聋的机理.%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.