Abnormal phase separation of biomacromolecules in human diseases  

作　　者：Songhao Zhang Gaofeng Pei Boya Li Pilong Li Yi Lin 

机构地区：[1]State Key Laboratory of Membrane Biology,Tsinghua University-Peking University Joint Centre for Life Sciences,School of Life Sciences,Tsinghua University,Beijing 100084,China [2]IDG/McGovern Institute for Brain Research at Tsinghua University,Beijing100084,China [3]Beijing Frontier Research Center for Biological Structure,Tsinghua University,Beijing 100084,China

出　　处：《Acta Biochimica et Biophysica Sinica》2023年第7期1133-1152,共20页生物化学与生物物理学报（英文版）

基　　金：supported by the grants from the National Natural Science Foundation of China(Nos.32170684 to Y.L.,32150023 and 32125010 to P.L.);the Ministry of Science and Technology of the People’s Republic of China(Nos.2022ZD0213900 and 2022ZD0204900 to Y.L.);the National Key Research and Development Program of China(No.2019YFA0508403 to P.L.)。

摘　　要：Membrane-less organelles(MLOs)formed through liquid-liquid phase separation(LLPS)are associated with numerous important biological functions,but the abnormal phase separation will also dysregulate the physiological processes.Emerging evidence points to the importance of LLPS in human health and diseases.Nevertheless,despite recent advancements,our knowledge of the molecular relationship between LLPS and diseases is frequently incomplete.In this review,we outline our current understanding about how aberrant LLPS affects developmental disorders,tandem repeat disorders,cancers and viral infection.We also examine disease mechanisms driven by aberrant condensates,and highlight potential treatment approaches.This study seeks to expand our understanding of LLPS by providing a valuable new paradigm for understanding phase separation and human disorders,as well as to further translate our current knowledge regarding LLPS into therapeutic discoveries.

关 键 词：membrane-less organelles developmental disorder tandem repeat disorder cancer infectious diseases abnormal phase separation 

分 类 号：R51[医药卫生—内科学]