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Updated: Feb 21, 2026
Identification of Circular RNAs using RNA Sequencing
Published on: November 14, 2019
Altered expression of circular RNAs in Moyamoya disease
Meng Zhao1, Faliang Gao1, Dong Zhang1
1Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China; China National Clinical Research Center for Neurological Diseases, Beijing, China; Stroke Center, Beijing Institute for Brain Disorders, Beijing, China.
Abstract:
Moyamoya disease (MMD) is the most common pediatric cerebrovascular disease in Eastern Asian countries but the etiology is not well understood. Circular RNAs (circRNAs) have been implicated in various biological processes, but their role in the development of MMD remains unclear. To address this issue, we carried out a comparative circRNA microarray analysis of blood samples obtained from patients with MMD and healthy subjects and identified 146 circRNAs that were differentially expressed between the two groups. Of these, 29 were upregulated and 117 were downregulated in patients as compared to controls (fold change ≥2.0 and P<0.05). The microarray results were validated by quantitative reverse-transcription PCR. Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway enrichment analyses revealed that the differentially expressed circRNAs were primarily involved in angiogenesis, metabolism, and immune responses in MMD. In addition, the mitogen-activated protein kinase signaling pathway was found to be the core regulatory pathway associated with disease pathogenesis. These results indicate that specific circRNAs are aberrantly expressed in MMD and are potential therapeutic targets for its treatment.
Insights
Circular RNAs (circRNAs) show altered expression in Moyamoya disease (MMD), a rare pediatric cerebrovascular condition. These circRNAs may offer new therapeutic targets for MMD treatment.
Area of Science:
- Genomics and Molecular Biology
- Neuroscience
- Vascular Biology
Background:
- Moyamoya disease (MMD) is a significant pediatric cerebrovascular disorder, particularly in East Asia.
- The underlying causes of MMD are not fully understood.
- The role of circular RNAs (circRNAs) in MMD pathogenesis is largely unexplored.
Purpose of the Study:
- To investigate the differential expression of circRNAs in patients with MMD compared to healthy individuals.
- To identify potential molecular mechanisms and pathways involved in MMD development.
- To explore circRNAs as potential diagnostic or therapeutic targets for MMD.
Main Methods:
- Comparative circRNA microarray analysis of blood samples from MMD patients and controls.
- Validation of microarray findings using quantitative reverse-transcription PCR (qRT-PCR).
- Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analyses.
Main Results:
- Identified 146 differentially expressed circRNAs in MMD patients, with 29 upregulated and 117 downregulated.
- Enrichment analyses indicated involvement of these circRNAs in angiogenesis, metabolism, and immune responses.
- The mitogen-activated protein kinase (MAPK) signaling pathway was identified as a core regulatory pathway in MMD.
Conclusions:
- Aberrant expression of specific circRNAs is a feature of Moyamoya disease.
- Differentially expressed circRNAs are implicated in key biological processes relevant to MMD pathogenesis.
- These circRNAs represent potential novel therapeutic targets for MMD.
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