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结合单细胞RNA测序和孟德尔随机化来探索帕金森病的新型药物靶点

Combining Single-Cell RNA Sequencing and Mendelian Randomization to Explore Novel Drug Targets for Parkinson's Disease.

作者信息

Wu Xiaolong, Wang Kailiang, Li Qinghua, Zhang Yuqing, Wei Penghu, Shan Yongzhi, Zhao Guoguang

机构信息

Department of Neurosurgery, Xuanwu Hospital of the Capital Medical University, Beijing, 100053, China.

International Neuroscience Institute (China-INI), Beijing, 100053, China.

出版信息

Mol Neurobiol. 2025 Jun;62(6):7380-7392. doi: 10.1007/s12035-025-04700-3. Epub 2025 Jan 31.

Abstract

Neuroinflammation is a key pathological factor of PD, and T cells play a central role in neuroinflammatory progression. However, the causal effect of T cell-related genes on the risk of PD is still unclear. We explored single-cell RNA sequencing (scRNA-Seq) datasets of the peripheral blood T cells of PD patients and healthy controls, and screened the differentially expressed genes (DEGs) in the cytotoxic CD4 + T cells relative to the other T cell subsets. Pseudo-time series analysis, cell-cell communication analysis, and metabolic pathway analysis was performed for the cytotoxic CD4 + T cells. The DEGs were also functionally annotated through GO and KEGG pathway enrichment analyses. The MR approach was used to establish causal effects of the DEGs (exposure) on PD risk (outcome), and explore new drug targets for PD. The findings of MR analysis were further validated by Steiger filtering, bidirectional MR, Bayesian colocalization analysis, and phenotype scanning, and the GWAS data from an independent PD case-control cohort was used for external validation of the results. Finally, differences in gene expression between PD patients and healthy controls were further validated in scRNA-Seq and bulk transcriptome sequencing data. We found that increased expression of IL-32, GNLY, MT2A, and ARPC2 was significantly associated with a higher risk of PD. In contrast, the increase in ARRB2 was closely related to a lower risk of PD. IL32, GNLY, MT2A, ARRB2, and ARPC2 are the causal genes and potential drug targets of PD. Cytotoxic CD4 + T cells are likely the key effectors of PD-related neuroinflammation. These findings provide new insights into the pathogenesis and treatment options for PD, and further research and clinical trials based on the five potential drug targets and neuroinflammation are necessary.

摘要

神经炎症是帕金森病(PD)的关键病理因素,T细胞在神经炎症进展中起核心作用。然而,T细胞相关基因对PD风险的因果效应仍不清楚。我们探索了PD患者和健康对照外周血T细胞的单细胞RNA测序(scRNA-Seq)数据集,并筛选了细胞毒性CD4 + T细胞相对于其他T细胞亚群的差异表达基因(DEGs)。对细胞毒性CD4 + T细胞进行了伪时间序列分析、细胞间通讯分析和代谢途径分析。还通过GO和KEGG通路富集分析对DEGs进行了功能注释。采用孟德尔随机化(MR)方法建立DEGs(暴露因素)对PD风险(结局)的因果效应,并探索PD的新药物靶点。通过Steiger过滤、双向MR、贝叶斯共定位分析和表型扫描进一步验证了MR分析的结果,并使用来自独立PD病例对照队列的全基因组关联研究(GWAS)数据对结果进行外部验证。最后,在scRNA-Seq和批量转录组测序数据中进一步验证了PD患者和健康对照之间的基因表达差异。我们发现,IL-32、GNLY、MT2A和ARPC2表达增加与PD风险较高显著相关。相反,ARRB2的增加与较低的PD风险密切相关。IL32、GNLY、MT2A、ARRB2和ARPC2是PD的因果基因和潜在药物靶点。细胞毒性CD4 + T细胞可能是PD相关神经炎症的关键效应细胞。这些发现为PD的发病机制和治疗选择提供了新的见解,基于这五个潜在药物靶点和神经炎症的进一步研究和临床试验是必要的。

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