Center for Research and Drug Development (NPDM), Federal University of Ceara, Fortaleza 60020-181, CE, Brazil.
Post-Graduate Program in Translational Medicine, Federal University of Ceara, Fortaleza 60020-181, CE, Brazil.
Int J Mol Sci. 2023 Jun 13;24(12):10058. doi: 10.3390/ijms241210058.
The aim of this study was to evaluate the expression of , , , and genes in Myelodysplastic neoplasm (MDS) to identify possible targets of ubiquitination and deubiquitination in MDS pathobiology. To achieve this, eight datasets from the Gene Expression Omnibus (GEO) database were integrated, and the expression relationship of these genes was analyzed in 1092 MDS patients and healthy controls. Our results showed that , , and were upregulated in MDS patients compared with healthy individuals, but only in mononucleated cells collected from bone marrow samples ( < 0.001). In contrast, only the gene showed a downregulated expression compared with healthy individuals ( = 0.03). Additionally, the upregulation of expression was identified in MDS patients with chromosomal abnormalities compared with patients with normal karyotypes ( = 0.0321), and the downregulation of expression was associated with MDS hypoplastic patients ( = 0.033). Finally, the and genes were strongly correlated with MDS (r = 0.82; r2 = 0.67; < 0.0001). These findings suggest that the differential expression of the axis and may play an important role in controlling genomic instability and the chromosomal abnormalities that are a striking characteristic of MDS.
本研究旨在评估 、 、 、 基因在骨髓增生异常综合征（MDS）中的表达，以鉴定 MDS 病理生物学中泛素化和去泛素化的可能靶点。为此，整合了来自基因表达综合数据库（GEO）的 8 个数据集，并分析了 1092 例 MDS 患者和健康对照者中这些基因的表达关系。结果显示，与健康个体相比，MDS 患者骨髓单核细胞中 、 、 基因呈上调表达，但仅在单核细胞中（<0.001）。相比之下，只有 基因与健康个体相比呈下调表达（=0.03）。此外，与核型正常的 MDS 患者相比，染色体异常的 MDS 患者 表达上调（=0.0321），而 表达下调与 MDS 发育不全患者相关（=0.033）。最后，和 基因与 MDS 具有强相关性（r=0.82；r2=0.67；<0.0001）。这些发现表明， 轴和 的差异表达可能在控制基因组不稳定性和 MDS 的染色体异常方面发挥重要作用，后者是 MDS 的一个显著特征。
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