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

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. STA samples and CCM sample were obtained from 3 epileptics (as healthy control in this research) and 1 CCM patient during surgery respectively. The samples were then isolated by Fluorescence-activated cell sorting (FACS) and analyzed using scRNA sequencing.