Twinkle突变导致Perrault综合征的研究进展  

Research progress on Perrault syndrome caused by Twinkle mutations

作　　者：田国帅 董文吉 汪伟[3] 张业[1] TIAN Guo-Shuai;DONG Wen-Ji;WANG Wei;ZHANG Ye(State Key Laboratory of Medical Molecular Biology,Department of Biochemistry and Molecular Biology,Institute of Basic Medical Sciences,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Genmedicn Biopharma Incorporation,Beijing 100176,China;Department of Neurology,China-Japan Friendship Hospital,Beijing 100029,China)

机构地区：[1]北京协和医学院/中国医学科学院基础医学研究所生物化学与分子生物学系,医学分子生物学国家重点实验室,北京100730 [2]中吉智药(北京)生物技术有限公司,北京100176 [3]中日友好医院神经内科,北京100029

出　　处：《生命科学》2020年第2期139-142,共4页Chinese Bulletin of Life Sciences

基　　金：国家自然科学基金青年科学基金项目(81701131);北京协和医学院研究生创新基金项目(2019-0710-21)。

摘　　要：Twinkle基因编码蛋白TWINKLE可进入线粒体内参与复制体的组成,维持线粒体DNA数目的稳定。Perrault综合征作为一种罕见的常染色体隐性遗传病,可由Twinkle突变导致,目前该疾病暂无全面的诊断方法和有效的治疗手段。现简要概述了Twinkle突变导致Perrault综合征的研究进展。Twinkle gene coding protein TWINKLE could enter the mitochondria to participate in the composition of the replicators, which plays a role in the mitochondrial DNA(mtDNA) maintenance. Perrault syndrome(PRLTS), a rare autosomal recessive genetic disease, could be caused by Twinkle mutations and there is no comprehensive diagnosis and effective treatment for this disease currently. This article provides a brief overview of the progress of the research on the PRLTS caused by Twinkle mutations.

关 键 词：TWINKLE Perrault综合征 线粒体DNA 

分 类 号：Q31[生物学—遗传学] R596[医药卫生—内科学]