Genomic Biomarkers and Molecular Mechanisms in Ischemic Stroke

Ischaemic stroke arises from occlusion of cerebral arteries, triggering a cascade of molecular events that culminate in neuronal injury and functional loss. Advances in genomics have identified a spectrum of biomarkers—ranging from inherited single‐nucleotide variants and gene expression signatures in peripheral blood cells to non-coding RNAs and epigenetic modifications—that reflect both genetic susceptibility and dynamic responses to vessel occlusion and reperfusion. Transcriptome‐wide analyses reveal time-dependent shifts in immune and clotting pathways: neutrophils display early upregulation of inflammatory mediators, whereas monocyte programmes often show delayed downregulation. Multi-omics integration, including proteomic and phosphoproteomic profiling of microglia and endothelial cells, has illuminated key mediators of excitotoxicity, oxidative stress and blood–brain barrier disruption. Central molecular mechanisms involve activation of the unfolded protein response, NF-κB-driven inflammation, neutrophil extracellular trap formation and dysregulation of cell survival pathways. Collectively, these insights underpin novel diagnostic tools for rapid subtype discrimination, inform risk stratification through polygenic risk scores and pinpoint therapeutic targets for neuroprotection and immunomodulation on a personalised basis.

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Genomic Biomarkers and Molecular Mechanisms in Ischemic Stroke publication trend

The graph below shows the total number of articles in genomic biomarkers and molecular mechanisms in ischemic stroke across all publications each year (not limited to Nature Index journals).

Technical terms

Genomic biomarker: A DNA- or RNA-based indicator of disease risk, diagnosis or prognosis.

Transcriptome: The complete set of RNA transcripts expressed in a cell or tissue at a given time.

RNA-seq: High-throughput sequencing method for quantifying gene expression across the transcriptome.

Proteomics: Large-scale study of the full complement of proteins, their modifications and interactions.

Unfolded protein response (UPR): Cellular stress pathway activated by accumulation of misfolded proteins in the endoplasmic reticulum.

NF-κB signalling: A key inflammatory transcription factor pathway that regulates immune and cell-survival genes.

References

1. Monocyte, neutrophil, and whole blood transcriptome dynamics following ischemic stroke. BMC Medicine (2023).
2. Unfolded protein response pathways in stroke patients: a comprehensive landscape assessed through machine learning algorithms and experimental verification. Journal of Translational Medicine (2023).
3. Multi-Omics Profiling Identifies Microglial Annexin A2 as a Key Mediator of NF-κB Pro-inflammatory Signaling in Ischemic Reperfusion Injury. Molecular & Cellular Proteomics (2024).