Altered expression of circular RNA in patients with cervical artery dissection
Yifan Wang1, Zhaofei Dong2, Jie Li1
1Department of Neurology, Shenzhen Hospital, Southern Medical University, Shenzhen, Guangdong, China.
Insights
Aberrant circular RNA (circRNA) expression is linked to cervical artery dissection (CeAD), a leading cause of stroke in young adults. These circRNAs may serve as diagnostic biomarkers and therapeutic targets for CeAD.
Area of Science:
- Neuroscience
- Genetics
- Molecular Biology
Background:
- Cervical artery dissection (CeAD) is a cerebrovascular disease and a primary cause of stroke in young individuals, often leading to misdiagnosis.
- Circular RNAs (circRNAs) are non-coding RNAs involved in gene regulation, with known associations with neurological disorders, but their role in CeAD remains unclear.
Purpose of the Study:
- To investigate the role of circRNAs in the pathophysiology of CeAD.
- To identify potential circRNA biomarkers for CeAD diagnosis.
Main Methods:
- High-throughput sequencing of peripheral blood mononuclear cells from CeAD patients and healthy controls.
- Bioinformatics analysis to identify differentially expressed circRNAs and associated pathways.
- Quantitative real-time PCR (qRT-PCR) for validation of key circRNAs.
Main Results:
- 460 differentially expressed circRNAs were identified in CeAD patients compared to controls (p < 0.05, fold change ≥ 2).
- 240 circRNAs were upregulated, and 220 were downregulated.
- Three circRNAs showed consistent differential expression upon qRT-PCR validation and were implicated in protein metabolism, synaptic function, and inflammatory pathways relevant to CeAD.
Conclusions:
- Aberrantly expressed circRNAs are associated with CeAD.
- These circRNAs may serve as valuable diagnostic biomarkers for CeAD.
- CircRNAs represent potential therapeutic targets for managing CeAD and its associated stroke complications.
Abstract:
Cervical artery dissection (CeAD), a special cerebrovascular disease and the main cause of stroke in young people, can present with ischemic stroke, headache, subarachnoid hemorrhage, and other symptoms, increasing the possibility of misdiagnosis. As a special class of non-coding RNAs, circRNAs are commonly found in organisms and can play regulatory roles in transcription and post-transcription processes, affecting gene expression.CircRNAs have reported to be associated with neurological diseases; however, their role in CeAD has not been discerned. In this study, we aimed to elucidate the pathophysiological changes in patients with CeAD and identify biomarkers. Peripheral blood mononuclear cells from patients with CeAD and healthy controls were sequenced using high-throughput sequencing. We detected 460 differently expressed circRNAs in patients with CeAD (p < 0.5, fold difference ≥ 2), of which 240 were upregulated and 220 were downregulated. Four circRNAs showed significant differences in expression, which were validated using qRT-PCR. These results suggested that three circRNAs were consistent with high-throughput sequencing results. Bioinformatics analysis demonstrated that these differentially expressed circRNAs were involved in protein metabolism, regulation, synapses, and other pathophysiological processes during CeAD-induced stroke. Additionally, various pathways related to inflammation were closely associated with circRNAs. Based on our results, we suggest that the aberrant expression of circRNAs in CeAD may serve as a biomarker for its diagnosis and as a potential therapeutic target.
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