In this study, two samples of Moyamoya disease and four normal samples were analyzed first. Through quality control, a total of 15,459 cells of Moyamoya disease and 20,079 normal control cells were obtained, as shown in Fig.
2A. Red represents Moyamoya disease samples and yellow represents normal samples. As shown in Fig.
2B, no significant batch effect was observed between the two samples of Moyamoya disease. Similarly, no significant batch effect was observed among the four samples of the normal control, while there was heterogeneity between the moyamoya disease and normal samples. Through dimensionality reduction and cluster analysis, all cells were coclustered into 25 clusters (Fig.
2C). A total of 7 cell types have been annotated, as shown in Fig.
2D: NK cells, T cells, B cells, HSC-G-CSF cells, Monocyte cells, Macrophage cells, Epithelial cells. In order to further explore the pathway activated in moyamoya disease, we first obtained significantly up-regulated genes in moyamoya disease by differential expressed gene analysis. The first five up-regulated genes were RPL11,PARK7, ENO1, RPL22 and DDOST. The five genes that were significantly down-regulated were EFHD2, SPEN, AL02AA55.5, PRDM2 and MICOS10 (Fig.
3A). In Fig.
3B-C, GO and KEGG enrichment analysis showed that functional pathways associated with moyamoya disease include RNA splicing, ribonucleoprotein complex biogenesis, and pathways of neurodegeneration multiple diseases, amyotrophic lateral sclerosis, etc. Then, we screened all moyamoya cells and explored the functional pathways. As shown in Fig.
3D, we found that most of the pathways were highly activated in Monocyte cells, Macrophage cells and Epithelial cells. However, the activation degree of NK cells, T cells and B cells was lower.