Peripheral Blood Gene Expression Profiling Reveals Molecular Pathways Associated with Cervical Artery Dissection
Shlapakova, Polina S ; Dobrynina, Larisa A ; Kalashnikova, Ludmila A ; Gubanova, Mariia V ; Danilova, Maria S ; Gnedovskaya, Elena V ; Grigorenko, Anastasia P ; Gusev, Fedor E ; Manakhov, Andrey D ; Rogaev, Evgeny I
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Abstract
Cervical artery dissection (CeAD) is the primary cause of ischemic stroke in young adults. Monogenic heritable connective tissue diseases account for fewer than 5% of cases of CeAD. The remaining sporadic cases have known risk factors. The clinical, radiological, and histological characteristics of systemic vasculopathy and undifferentiated connective tissue dysplasia are present in up to 70% of individuals with sporadic CeAD. Genome-wide association studies identified CeAD-associated genetic variants in the non-coding genomic regions that may impact the gene transcription and RNA processing. However, global gene expression profile analysis has not yet been carried out for CeAD patients. We conducted bulk RNA sequencing and differential gene expression analysis to investigate the expression profile of protein-coding genes in the peripheral blood of 19 CeAD patients and 18 healthy volunteers. This was followed by functional annotation, heatmap clustering, reports on gene-disease associations and protein-protein interactions, as well as gene set enrichment analysis. We found potential correlations between CeAD and the dysregulation of genes linked to nucleolar stress, senescence-associated secretory phenotype, mitochondrial malfunction, and epithelial-mesenchymal plasticity.
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Shlapakova PS, Dobrynina LA, Kalashnikova LA, Gubanova MV, Danilova MS, Gnedovskaya EV, Grigorenko AP, Gusev FE, Manakhov AD, Rogaev EI. Peripheral Blood Gene Expression Profiling Reveals Molecular Pathways Associated with Cervical Artery Dissection. Int J Mol Sci. 2024 May 10;25(10):5205. doi: 10.3390/ijms25105205. PMID: 38791244; PMCID: PMC11121660.