Abstract
PURPOSE: Moyamoya disease (MMD) is a cerebrovascular disorder with diverse clinical manifestations. Surgical revascularization is currently the optimal choice in the treatment of MMD; however, it could not prevent the progression of the disease. Inflammation and immunity factors have been reported to play the pivotal role in the pathogenesis of MMD, but there were still limited studies concerning the inflammatory landscape. Here, we aimed to investigate the molecular signatures of MMD to outline the inflammatory feature of MMD. PATIENTS AND METHODS: A total of 89 MMD patients and 93 healthy subjects were recruited for this study. We then divided all patients into screening cohort (15 MMD patients and 21 healthy subjects) and validation cohort (74 MMD patients and 72 healthy subjects). Proteomic analysis of the cerebrospinal fluid (CSF) was performed in the screening cohort, which contained 363 inflammation-related molecules. Then we used ELISA assay to validation of molecules of differential expression. RESULTS: We screened 192 inflammation-related proteins that were differentially expressed in the CSF of MMD patients. Among that, 191 proteins were upregulated, while IL-20RA were downregulated (p=0.042). The bioinformatic analysis found a potential inflammatory landscape of MMD, offering clues for pathogenetic and therapeutic targets in the mechanistic study. We then validated that downregulation of IL-20RA in CSF was associated with the risk of MMD in the validation cohort. CONCLUSION: This study provided molecular signatures of MMD with a large-scale proteomic analysis of CSF. IL-20RA might be a key element in the pathogenesis of MMD.