Construction and Analysis of Immune Infiltration and Competing Endogenous RNA Network in Moyamoya Disease

Moyamoya disease (MMD) is a cerebrovascular condition characterized by progressive stenosis of intracranial arteries, leading to stroke. While MMD was long considered a genetic disorder, emerging evidence suggests autoimmune mechanisms may contribute to its pathogenesis. The role of non-coding RNAs (ncRNAs) in the pathogenesis of MMD is under heated discussion, and a competitive endogenous RNA (ceRNA) network involving MMD-related ncRNAs has not been constructed. In this study, we integrated multiple bioinformatic analyses on transcriptomic data from the middle cerebral arteries of MMD patients and controls. Our analysis revealed a significant enrichment of innate immune system pathways, including antigen processing and macrophage activation, in MMD tissue. We constructed a robust ceRNA network centered on the long non-coding RNA <i>MALAT1</i>, identifying 15 core mRNA targets. A classifier built from these <i>MALAT1</i>-related genes accurately distinguished MMD patients from controls, with an area under the curve of 0.869 in independent validation. Furthermore, immune deconvolution analysis showed a marked increase in microvascular endothelial cells and a decrease in CD4⁺ memory T cells and regulatory T cells in MMD arteries. The expression of the <i>MALAT1</i> network genes strongly correlated with these shifts in cellular composition, positively with endothelial cells and negatively with T cells. Our findings uncover a <i>MALAT1</i>-driven ceRNA network that links immune dysregulation to vascular changes in MMD, highlighting <i>MALAT1</i> as a potential biomarker and therapeutic target.