Novel Analysis of Functional Relationship Linking Moyamoya Disease to Moyamoya Syndrome

Overview

Journal Heliyon

Specialty Social Sciences

Date 2024 Aug 16

PMID 39149038

Authors

Lei Cao

Wenzhi Yang

Xiaozong Duan

Yipu Shao

Zhizhong Zhang

Chenchao Wang

Kaiwen Sun

Manxia Zhang

Hongwei Li

Kouji H Harada

Bo Yang

Affiliations

Soon will be listed here.

Abstract

Objective: The aim of this study was to elucidate the genetic pathways associated with Moyamoya disease (MMD) and Moyamoya syndrome (MMS), compare the functional activities, and validate relevant related genes in an independent dataset.

Methods: We conducted a comprehensive search for genetic studies on MMD and MMS across multiple databases and identified related genes. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichments analyses were performed for these genes. Commonly shared genes were selected for further validation in the independent dataset, GSE189993. The Sangerbox platform was used to perform statistical analysis and visualize the results. ＜0.05 indicated a statistically significant result.

Results: We included 52 MMD and 51 MMS-related publications and identified 126 and 51 relevant genes, respectively. GO analysis for MMD showed significant enrichment in cytokine activity, cell membrane receptors, enzyme binding, and immune activity. A broader range of terms was enriched for MMS. KEGG pathway analysis for MMD highlighted immune and cellular activities and pathways related to MMS prominently featured inflammation and metabolic disorders. Notably, nine overlapping genes were identified and validated. The expressions of RNF213, PTPN11, and MTHFR demonstrated significant differences in GSE189993. A combined receiver operating characteristic curve showed high diagnostic accuracy (AUC = 0.918).

Conclusions: The findings indicate a close relationship of MMD with immune activity and MMS with inflammation, metabolic processes and other environmental factors in a given genetic background. Differentiating between MMD and MMS can enhance the understanding of their pathophysiology and inform the strategies for their diagnoses and treatment.

Citing Articles

Clinical Outcomes and Stroke Recurrence in Moyamoya Disease Post-Revascularization: A Retrospective Analysis.

Alhumaid A, Taher N, Alanazi R, Bensaeed N J Pharm Bioallied Sci. 2025; 16(Suppl 5):S4628-S4633.

PMID: 40061704 PMC: 11888732. DOI: 10.4103/jpbs.jpbs_1085_24.

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