The role of Down syndrome cell adhesion molecule in Down syndrome  

作　　者：Ty Hergenreder Tao Yang Bing Ye 

机构地区：[1]Life Sciences Institute and Department of Cell and Developmental Biology,University of Michigan,Ann Arbor,MI,USA [2]Life Sciences Institute and Department of Cell and Developmental Biology,University of Michigan,210 Washtenaw Avenue,Room 5403,Ann Arbor,MI,48109,USA

出　　处：《Medical Review》2024年第1期31-41,共11页医学评论（英文）

基　　金：supported by funding from National Institutes of Health(R21NS094091);the Brain Research Foundation,and the Protein Folding Disease Initiative of the University of Michigan.

摘　　要：Down syndrome(DS)is caused by the presence of an extra copy of the entire or a portion of human chromosome 21(HSA21).This genomic alteration leads to elevated expression of numerous HSA21 genes,resulting in a variety of health issues in individuals with DS.Among the genes located in the DS“critical region”of HSA21,Down syndrome cell adhesion molecule(DSCAM)plays an important role in neuronal development.There is a growing body of evidence underscoring DSCAM’s involvement in various DS-related disorders.This review aims to provide a concise overview of the established functions of DSCAM,with a particular focus on its implications in DS.We delve into the roles that DSCAM plays in DS-associated diseases.In the concluding section of this review,we explore prospective avenues for future research to further unravel DSCAM’s role in DS and opportunities for therapeutic treatments.

关 键 词：Down syndrome DSCAM NEURON AXON GABAergic synapse 

分 类 号：R596.1[医药卫生—内科学]