| Autor: |
Shlapakova PS; Third Neurological Department, Research Center of Neurology, Moscow 125367, Russia., Dobrynina LA; Third Neurological Department, Research Center of Neurology, Moscow 125367, Russia., Kalashnikova LA; Third Neurological Department, Research Center of Neurology, Moscow 125367, Russia., Gubanova MV; Third Neurological Department, Research Center of Neurology, Moscow 125367, Russia., Danilova MS; Third Neurological Department, Research Center of Neurology, Moscow 125367, Russia., Gnedovskaya EV; Third Neurological Department, Research Center of Neurology, Moscow 125367, Russia., Grigorenko AP; Department of Genomics and Human Genetics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow 119333, Russia., Gusev FE; Department of Genomics and Human Genetics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow 119333, Russia.; Department of Genetics, Center for Genetics and Life Science, Sirius University of Science and Technology, Sochi 354340, Russia., Manakhov AD; Department of Genetics, Center for Genetics and Life Science, Sirius University of Science and Technology, Sochi 354340, Russia.; Center for Genetics and Genetic Technologies, Faculty of Biology, Lomonosov Moscow State University, Moscow 119192, Russia., Rogaev EI; Department of Genetics, Center for Genetics and Life Science, Sirius University of Science and Technology, Sochi 354340, Russia.; Department of Psychiatry, UMass Chan Medical School, 222 Maple Ave, Reed-Rose-Gordon Building, Shrewsbury, MA 01545, USA. |
| Abstrakt: |
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. |
