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.
作者
田国帅
董文吉
汪伟
张业
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)
出处
《生命科学》
CSCD
北大核心
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)。
