Novel analysis of functional relationship linking moyamoya disease to moyamoya syndrome

• DOI: 10.1016/j.heliyon.2024.e34600
• Publication Date: 2024-07-18T01:34:37Z
• Authors: Lei Cao; Wenzhi Yang; Xiaozong Duan; Yipu Shao; Zhizhong Zhang; Chenchao Wang; Kaiwen Sun; Manxia Zhang; Hongwei Li; Kouji H. Harada; Bo Yang
• Keywords: Moyamoya Disease

ObjectiveThe aim of this study was to elucidate the genetic pathways associated with Moyamoya disease (MMD) and syndrome (MMS), compare functional activities, validate relevant related genes in an independent dataset.MethodsWe conducted a comprehensive search for studies on MMD MMS across multiple databases identified genes. Gene Ontology (GO) Kyoto Encyclopedia Genes Genomes (KEGG) pathway enrichments analyses were performed these Commonly shared selected further validation dataset, GSE189993. The Sangerbox platform used perform statistical analysis visualize results. P<0.05 indicated statistically significant result.ResultsWe included 52 51 MMS-related publications 126 genes, respectively. GO showed enrichment cytokine activity, cell membrane receptors, enzyme binding, immune activity. A broader range terms enriched MMS. KEGG highlighted cellular activities prominently featured inflammation metabolic disorders. Notably, nine overlapping validated. expressions RNF213, PTPN11, MTHFR demonstrated differences combined receiver operating characteristic curve high diagnostic accuracy (AUC = 0.918).ConclusionsThe findings indicate close relationship activity inflammation, processes other environmental factors given background. Differentiating between can enhance understanding their pathophysiology inform strategies diagnoses treatment.