Gene dysregulation in peripheral blood of moyamoya disease and comparison with other vascular disorders
Autoři:
Xing Peng aff001; Zhengshan Zhang aff003; Dongqing Ye aff001; Peiqi Xing aff001; Zhengxing Zou aff003; Hongxing Lei aff001; Lian Duan aff003
Působiště autorů:
CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China
aff001; University of Chinese Academy of Sciences, Beijing, China
aff002; Department of Neurosurgery, the Fifth Medical Center, Chinese PLA General Hospital, Beijing, China
aff003; Center of Alzheimer’s Disease, Beijing Institute for Brain Disorders, Beijing, China
aff004
Vyšlo v časopise:
PLoS ONE 14(9)
Kategorie:
Research Article
prolekare.web.journal.doi_sk:
https://doi.org/10.1371/journal.pone.0221811
Souhrn
Objective
Moyamoya disease (MMD) is a chronic occlusive cerebrovascular disease with unknown etiology, sharing many similar clinical symptoms with other vascular disorders. This study aimed to investigate gene dysregulation in peripheral blood of MMD and compare it with other vascular disorders.
Methods
Transcriptomic profiles of 12 MMD patients and 8 healthy controls were obtained using RNA sequencing. Differentially expressed genes (DEGs) were identified and several were validated by quantitative real-time PCR in independent samples. Biological pathway enrichment analysis of DEGs and deconvolution of leukocyte subsets in peripheral blood were performed. Expression profiles for other vascular diseases were downloaded from public database and consistent DEGs were calculated. Gene set enrichment analysis (GSEA) was conducted to compare gene dysregulation pattern between MMD and other vascular diseases.
Results
A total of 533 DEGs were identified for MMD. Up-regulated genes were mainly involved in extracellular matrix (ECM) organization, whereas down-regulated genes were primarily associated with inflammatory and immune responses. As for cell populations, significantly increased naïve B cells and naïve CD4 cells as well as obviously decreased resting natural killer cells were observed in peripheral blood of MMD patients. GSEA analysis indicated that only up-regulated genes of ischemic stroke and down-regulated genes of coronary artery disease and myocardial infarction were enriched in up-regulated and down-regulated genes of MMD, respectively.
Conclusion
Dysregulated genes in peripheral blood of MMD mainly played key roles in ECM organization, inflammatory and immune responses. This gene dysregulation pattern was specific compared with other vascular diseases. Besides, naïve B cells, naïve CD4 cells and resting natural killer cells were aberrantly disrupted in peripheral blood of MMD patients. These results will help elucidate the complicated pathogenic mechanism of MMD.
Klíčová slova:
Biology and life sciences – Cell biology – Genetics – Gene expression – Genomics – Genome analysis – Computational biology – Cellular types – Animal cells – Anatomy – Medicine and health sciences – Physiology – Immunology – Immune response – Body fluids – Blood – Neurology – Blood cells – White blood cells – Immune cells – Vascular medicine – Cardiology – Coronary heart disease – Myocardial infarction – Gene ontologies – Brain diseases
Zdroje
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