Perspectives in the investigation of Cockayne syndrome group B neurological disease:the utility of patient-derived brain organoid models  

作　　者：Xintai WANG Rui ZHENG Marina DUKHINOVA Luxi WANG Ying SHEN Zhijie LIN 

机构地区：[1]Zhejiang Key Laboratory of Organ Development and Regeneration,College of Life and Environmental Sciences,Hangzhou Normal University,Hangzhou 311121,China [2]The Children’s Hospital,National Clinical Research Center for Child Health,Zhejiang University School of Medicine,Hangzhou 310052,China [3]Department of Physiology,Zhejiang University School of Medicine,Hangzhou 310058,China [4]Center for Brain Health,the Fourth Affiliated Hospital of School of Medicine/International School of Medicine,International Institutes of Medicine,Zhejiang University,Yiwu 322001,China

出　　处：《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》2024年第10期878-889,共12页浙江大学学报（英文版）B辑（生物医学与生物技术）

基　　金：supported by the National Natural Science Foundation of China(Nos.32000692 and 32200816).

摘　　要：Cockayne syndrome(CS)group B(CSB),which results from mutations in the excision repair cross-complementation group 6(ERCC6)genes,which produce CSB protein,is an autosomal recessive disease characterized by multiple progressive disorders including growth failure,microcephaly,skin photosensitivity,and premature aging.Clinical data show that brain atrophy,demyelination,and calcification are the main neurological manifestations of CS,which progress with time.Neuronal loss and calcification occur in various brain areas,particularly the cerebellum and basal ganglia,resulting in dyskinesia,ataxia,and limb tremors in CSB patients.However,the understanding of neurodevelopmental defects in CS has been constrained by the lack of significant neurodevelopmental and functional abnormalities observed in CSB-deficient mice.In this review,we focus on elucidating the protein structure and distribution of CSB and delve into the impact of CSB mutations on the development and function of the nervous system.In addition,we provide an overview of research models that have been instrumental in exploring CS disorders,with a forward-looking perspective on the substantial contributions that brain organoids are poised to further advance this field.

关 键 词：Cockayne syndrome Cockayne syndrome group B(CSB) Neurological function CEREBELLUM ORGANOIDS 

分 类 号：R74[医药卫生—神经病学与精神病学] R318[医药卫生—临床医学]