首页|Decoding hereditary spastic paraplegia pathogenicity through transcriptomic profiling

Decoding hereditary spastic paraplegia pathogenicity through transcriptomic profiling

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Hereditary spastic paraplegia (HSP) is a group of genetic motor neuron diseases resulting from length-dependent axonal degeneration of the corticospinal upper motor neurons. Due to the advancement of next-generation sequencing, more than 70 novel HSP disease-causing genes have been identified in the past decade. Despite this, our understanding of HSP physiopathology and the development of efficient management and treatment strategies remain poor. One 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 patient. Furthermore, disease genes may exhibit ubiquitous expression patterns and involve a myriad of different pathways to cause motor neuron degeneration. In 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 tissues. Furthermore, we discuss the potential of emerging single-cell RNA sequencing technologies to resolve unanswered questions related to HSP pathogenicity.

Hereditary spastic paraplegiaMotor neuron degenerationDisease pathogenicityTranscriptome analysisSingle-cell RNA sequencing

Nicolas James Ho、Xiao Chen、Yong Lei、Shen Gu

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School of Biomedical Sciences,Faculty of Medicine,The Chinese University of Hong Kong,Hong Kong SAR,China

Dr.Li Dak Sum-Yip Yio Chin Center for Stem Cells and Regenerative Medicine and Department of Orthopedic Surgery of the Second Affiliated Hospital,Zhejiang University School of Medicine,Hangzhou,Zhejiang 310058,China

Key Laboratory of Tissue Engineering and Regenerative Medicine of Zhejiang Province,Zhejiang University School of Medicine,Hangzhou,Zhejiang 310058,China

Zhejiang University-University of Edinburgh Institute & School of Basic Medicine,Zhejiang University School of Medicine,Hangzhou,Zhejiang 3100

School of Medicine,The Chinese University of Hong Kong(Shenzhen),Shenzhen,Guangdong 518172,China

The Chinese University of Hong Kong(Shenzhen),Shenzhen Futian Biomedical Innovation R&D Center,Shenzhen,Guangdong 518172,China

Key Laboratory for Regenerative Medicine,Ministry of Education,School of Biomedical Sciences,Faculty of Medicine,The Chinese University of Hong Kong,Hong Kong SAR,China

Kunming Institute of Zoology-The Chinese University of Hong Kong(KIZ-CUHK)Joint Laboratory of Bioresources and Molecular Research of Common Diseases,Hong Kong SAR,China

Hong Kong Branch of CAS Center for Excellence in Animal Evolution an

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General Research Fund from the Research Grants Council of Hong KongDirect Grant from the Chinese University of Hong KongNational Natural Science Foundation of ChinaNational Natural Science Foundation of ChinaHong Kong RGC-CRF Equipment Fund C5033-19EShenzhen-Hong Kong Cooperation Zone for Technology and InnovationGanghong Young Scholar Development Fund (to Y.L.)Hong Kong Branch of the CAS Center for Excellence in Animal Evolution and Genetics, Chinese University of Hong Kong

241019212020.0963217058382202045HZQB-KCZYB-20200568601010

2023

10.24272/j.issn.2095-8137.2022.281

动物学研究
中国科学院昆明动物研究所 中国动物学会

动物学研究

CSTPCDCSCD
影响因子：0.582
ISSN：0254-5853
年,卷(期)：2023.44(3)
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