Decoding hereditary spastic paraplegia pathogenicity through transcriptomic profiling

作     者：Nicolas James Ho Xiao Chen Yong Lei Shen Gu Nicolas James Ho;Xiao Chen;Yong Lei;Shen Gu

作者机构：School of Biomedical SciencesFaculty of MedicineThe Chinese University of Hong KongHong Kong SARChina Dr.Li Dak Sum-Yip Yio Chin Center for Stem Cells and Regenerative Medicine and Department of Orthopedic Surgery of the Second Affiliated HospitalZhejiang University School of MedicineHangzhouZhejiang 310058China Key Laboratory of Tissue Engineering and Regenerative Medicine of Zhejiang ProvinceZhejiang University School of MedicineHangzhouZhejiang 310058China Zhejiang University-University of Edinburgh Institute&School of Basic MedicineZhejiang University School of MedicineHangzhouZhejiang 310058China Department of Sports MedicineZhejiang University School of MedicineHangzhouZhejiang 310058China China Orthopedic Regenerative Medicine Group(CORMed)HangzhouZhejiang310058 China School of MedicineThe Chinese University of Hong Kong(Shenzhen)ShenzhenGuangdong 518172China The Chinese University of Hong Kong(Shenzhen)Shenzhen Futian Biomedical Innovation R&D CenterShenzhenGuangdong 518172China Key Laboratory for Regenerative MedicineMinistry of EducationSchool of Biomedical SciencesFaculty of MedicineThe Chinese University of Hong KongHong Kong SARChina Kunming Institute of Zoology-The Chinese University of Hong Kong(KIZ-CUHK)Joint Laboratory of Bioresources and Molecular Research of Common DiseasesHong Kong SARChina Hong Kong Branch of CAS Center for Excellence in Animal Evolution and GeneticsThe Chinese University of Hong KongHong Kong SARChina 

出 版 物：《Zoological Research》 (动物学研究（英文）)

年 卷 期：2023年第44卷第3期

页      面：650-662页

核心收录：

学科分类：1002[医学-临床医学] 100204[医学-神经病学] 10[医学] 

基　　金：supported by the General Research Fund from the Research Grants Council of Hong Kong(24101921) Direct Grant from the Chinese University of Hong Kong(2020.096) National Natural Science Foundation of China(32170583,82202045) Hong Kong RGCCRF Equipment Fund C5033-19E Shenzhen-Hong Kong Cooperation Zone for Technology and Innovation(HZQB-KCZYB-2020056) Ganghong Young Scholar Development Fund(to Y.L.) Additional support was provided by the Hong Kong Branch of the CAS Center for Excellence in Animal Evolution and Genetics,Chinese University of Hong Kong(8601010) 

主　　题：degeneration transcript hereditary 

摘      要：Hereditary spastic paraplegia(HSP)is a group of genetic motor neuron diseases resulting from length-dependent axonal degeneration of the corticospinal upper motor *** to the advancement of next-generation sequencing,more than 70 novel HSP disease-causing genes have been identified in the past *** this,our understanding of HSP physiopathology and the development of efficient management and treatment strategies remain *** major challenge in studying HSP pathogenicity is selective neuronal vulnerability,characterized by the manifestation of clinical symptoms that are restricted to specific neuronal populations,despite the presence of germline disease-causing variants in every cell of the ***,disease genes may exhibit ubiquitous expression patterns and involve a myriad of different pathways to cause motor neuron *** the current review,we explore the correlation between transcriptomic data and clinical manifestations,as well as the importance of interspecies models by comparing tissue-specific transcriptomic profiles of humans and mice,expression patterns of different genes in the brain during development,and single-cell transcriptomic data from related ***,we discuss the potential of emerging single-cell RNA sequencing technologies to resolve unanswered questions related to HSP pathogenicity.