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Single-Cell Transcriptomic Analysis of Cellular Composition and Signaling Pathways in Cerebral Cavernous Malformation

ABSTRACT: Lesional brain vascular tissues from CCM patients and normal brain vascular tissues from healthy 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. 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 Natural Killer 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.

ORGANISM(S): Homo sapiens

PROVIDER: GSE294555 | GEO | 2025/04/15

REPOSITORIES: GEO

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