ORIGINAL RESEARCH article
Front. Immunol.
Sec. Inflammation
Volume 16 - 2025 | doi: 10.3389/fimmu.2025.1592343
Single-Cell Transcriptome Profiling Reveals Dynamic Cell Populations and Immune Infiltration in Cerebral Cavernous Malformation
Provisionally accepted
- 1First Hospital of Qinhuangdao, Qinhuangdao, Hebei Province, China
- 2Peking Union Medical College Hospital (CAMS), Beijing, China
- 3Beijing Tiantan Hospital, Capital Medical University, Beijing, Beijing Municipality, China
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Introduction: The cellular subpopulations and signaling pathways in the pathological tissues of cerebral cavernous malformation (CCM) remain incompletely understood. To gain a deeper understanding of the pathogenesis of CCM, we aimed to comprehensively map the cellular subpopulations and signaling pathway alterations in the pathological tissues of sporadic CCM patients. Methods: Lesional brain vascular tissues from CCM patients and normal brain vascular tissues from controls were collected. Multiplex fluorescent immunohistochemistry and single-cell RNA sequencing were performed on the lesional tissues. Differential gene expression, pathway enrichment analysis, and cell-cell communication analysis were conducted to investigate disease-related changes.Results: We identified 8 major cell types in the lesion tissues of CCM patients. We observed an increased proportion of monocytes, neutrophils, and NK cells in the lesion tissues of CCM patients. Twenty-eight significantly differentially expressed genes were identified, and pathways such as NK cell-mediated cytotoxicity showed alterations. Cell-cell communication analysis revealed an increase in both the types and strength of communication between cells in the CCM lesion tissues.Conclusion: This study provides the single-cell transcriptomic analysis of CCM lesions, revealing increased monocytes, neutrophils, and NK cells, along with dysregulated gene expression and signaling pathways. Enhanced intercellular communication, particularly via VEGF and ADGRE5 pathways, highlights potential therapeutic targets for CCM.Keywords: Cerebral cavernous malformation; Single-cell RNA sequencing; Multiplex fluorescent immunohistochemistry
Keywords: Cerebral cavernous malformation, single-cell RNA sequencing, multiplex fluorescent immunohistochemistry, Cell populations, Immune infiltration
Received: 13 Mar 2025; Accepted: 12 May 2025.
Copyright: © 2025 Han, Lei, Zhou, Liu, Zhao and He. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Shihao He, Peking Union Medical College Hospital (CAMS), Beijing, China
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