Multi-omics research on moyamoya disease: current perspectives and future directions

Moyamoya disease (MMD) is a rare, progressive cerebrovascular disorder characterized by internal carotid artery stenosis and compensatory vascular network formation. While its pathogenesis remains unclear, multi-omics approaches provide crucial molecular insights. Genomic studies identify significant associations with the RNF213 p.R4810K variant and other susceptibility loci like HLA-DQA2 and GUCY1A3. Transcriptomics reveals dysregulation in extracellular matrix organization and mitochondrial oxidative phosphorylation, with specific markers such as AQP4 and non-coding RNAs (e.g., miR-107). Proteomic analyses highlight alterations in proteins including VEGF, apolipoproteins (APOC1, APOD), and ferroptosis-related pathways. Metabolomics identifies diagnostic amino acid markers (L-lysine, L-glutamate) and altered lysophosphatidylcholine (LPC 16:1) levels. Epigenomics implicates DNA methylation changes in genes like SOX6 and KCNMA1. Integrated multi-omics facilitates the development of multifaceted treatments, including revascularization surgery, targeted molecular therapies, and personalized interventions based on individual omics profiles, advancing precision medicine for MMD. This article outlines the omics techniques' application progress in MMD, discussing their pros and cons in disease analysis, prevention, and treatment, aiming to guide future research and inform clinical decisions.