《生命科学》 2020, 32(2): 139-142

Twinkle突变导致Perrault综合征的研究进展

田国帅1，董文吉2，汪　伟3*，张　业1*

(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)

摘　要：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。

Research progress on Perrault syndrome caused by Twinkle mutations        

TIAN Guo-Shuai1， DONG Wen-Ji2， WANG Wei3*， ZHANG Ye1*

(1 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; 2 Genmedicn Biopharma Incorporation， Beijing 100176， China; 3 Department of Neurology， China-Japan Friendship Hospital， Beijing 100029， China)

Abstract: Abstract: 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.