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Differentially Expressed Genes and Biological Pathways in Moyamoya Disease: A Systematic Review and Meta-analysis of
Yunru Chen1, Hao Xing Lai1, Eda Liew1
1Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Abstract:
Moyamoya disease (MMD) is a chronic cerebrovascular disorder characterised by the progressive stenosis of bilateral internal carotid arteries, predominantly affecting East Asian populations. Recent advances in RNA expression studies have provided insights into the molecular underpinnings of MMD. This study aims to aggregate transcriptomic data to identify the top differentially expressed genes (DEGs) across published studies and elucidate biological pathways associated with MMD. We conducted a systematic search of the PubMed and Embase databases, identifying 15 transcriptomic studies involving RNA transcriptome-wide analyses of 177 MMD patients. Following preprocessing of significantly upregulated and downregulated Genes, we performed biological pathway enrichment analysis to identify DEGs between MMD patients and control. Additionally, Gene-transcription factor and Gene-drug interaction analyses were conducted to explore potential therapeutic repurposing. Our analysis revealed 98 upregulated and 37 downregulated DEGs (Bonferroni-adjusted p-values < 0.05) significantly associated with MMD. In peripheral blood cells (PBCs), upregulated pathways were predominantly associated with mitotic kinetochore assembly and response to axon injury, while downregulated pathways were linked to cellular response to brain-derived neurotrophic factor (BDNF) and extracellular matrix organization. In vascular tissues, mitotic pathways were notably upregulated, whereas the regulation of cell proliferation and blood circulation pathways were suppressed. Gene-drug interaction analysis highlighted MI-773 and MLN 8237 as potential MMD therapy. This study identifies distinct biological pathways that are dysregulated in key tissues of MMD patients. Given the current limited treatment options for MMD, our findings offer potential biomarkers for risk stratification and novel therapeutic targets that could pave the way for improved management of this debilitating disease.
Insights
This study analyzed gene expression in Moyamoya disease (MMD) patients, identifying key biological pathways and potential drug targets. Findings may improve risk stratification and treatment for this rare cerebrovascular disorder.
Area of Science:
- Genomics
- Molecular Biology
- Neuroscience
Background:
- Moyamoya disease (MMD) is a progressive cerebrovascular disorder causing internal carotid artery stenosis, primarily in East Asian populations.
- Understanding the molecular basis of MMD is crucial for developing effective treatments.
Purpose of the Study:
- To identify differentially expressed genes (DEGs) and associated biological pathways in MMD by aggregating transcriptomic data from multiple studies.
- To explore potential therapeutic targets through gene-drug interaction analysis.
Main Methods:
- Systematic literature search of PubMed and Embase for transcriptomic studies on MMD.
- Meta-analysis of RNA sequencing data from 177 MMD patients and controls.
- Pathway enrichment, gene-transcription factor, and gene-drug interaction analyses.
Main Results:
- Identified 98 upregulated and 37 downregulated DEGs in MMD patients.
- Upregulated pathways in peripheral blood cells (PBCs) involved mitotic kinetochore assembly and axon injury response.
- Downregulated pathways in PBCs related to BDNF signaling and extracellular matrix organization; vascular tissues showed similar mitotic pathway upregulation and suppressed proliferation/circulation pathways.
- MI-773 and MLN 8237 identified as potential therapeutic agents.
Conclusions:
- Distinct biological pathways are dysregulated in MMD patients' peripheral blood and vascular tissues.
- Findings provide potential biomarkers for MMD risk stratification and novel therapeutic targets for improved disease management.
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