GTPBP3基因突变致线粒体功能障碍与肥厚型心肌病的研究进展

Research progress of mitochondrial dysfunction and hypertrophic cardiomyopathy caused by GTPBP3 gene mutation

GTP结合蛋白3(GTPBP3)是一种高度保守的tRNA修饰酶,GTPBP3基因突变可引起线粒体t RNAs转录后修饰缺陷,影响线粒体内翻译的保真度和效率,造成线粒体氧化呼吸链功能障碍,引发罕见的以肥厚型心肌病、脑病和乳酸酸中毒为主要表现的联合氧化磷酸化缺陷23型(COXPD23)。近年来随着基因检测在疑难罕见疾病诊断中应用增加,陆续出现有关GTPBP3基因导致以心肌肥厚为主要特征的线粒体疾病的研究报道。本文就近年来GTPBP3基因功能及临床研究进展进行论述,以期提高大家对GTPBP3基因及相关疾病的认识。

GTP binding protein 3(GTPBP3)is a highly conserved tRNA modifying enzyme.Mutations in GTPBP3 can affect the fidelity and efficiency of mitochondrial translation by causing defects during post-transcriptional modification of mitochondrial tRNAs,which leads the mitochondrial oxidative respiratory chain dysfunction and then triggers the rare Combined Oxidative Phosphorylation Deficiency 23(COXPD23)with hypertrophic cardiomyopathy,encephalopathy and lactic acidosis as the main manifestations.With the increased use of genetic test in the diagnosis of difficult and rare diseases,papers on mitochondrial diseases characterized primarily by cardiac hypertrophy due to GTPBP3 gene have emerged in recent years.This review provides an overview of recent advances in functional and clinical research on GTPBP3,that may lead to better understanding of the GTPBP3 associated mitochondrial disease.