Center for Molecular Biology and Genetic Engineering (CBMEG), University of Campinas - UNICAMP, Campinas, SP 13083-875, Brazil.
Department of Obstetrics and Gynecology, University of Campinas - UNICAMP, Campinas, SP 13083-880, Brazil.
Blood Cells Mol Dis. 2020 Sep;84:102458. doi: 10.1016/j.bcmd.2020.102458. Epub 2020 Jun 8.
Sickle cell disease (SCD) is a group of disorders whose common characteristic is the presence of hemoglobin (Hb) S in erythrocytes. The main consequence of this abnormality is vaso-occlusion, which can affect almost all organs including the placenta. This study aimed to evaluate the gene expression profile in placentas of women with SCD by means of total RNA sequencing. For this, we proposed a case-control study, with three groups of pregnant women: HbSS (n = 10), HbSC (n = 14) and HbAA (n = 21). The results showed differences in expression in a number of genes such as NOS2 (fold change, FC = 4.52), HLAG (FC = 5.56), ASCL2 (FC = 3.61), CXCL10 (FC = -3.66) and IL1R2 (FC = 3.92) for the HbSC group and S100A8 (FC = -3.82), CPXM2 (FC = 4.57), CXCL10 (FC = -4.59), CXCL11 (FC = -3.72) and CAMP (FC = -4.55) for the HbSS group. Differentially expressed genes are mainly associated with migration, trophoblast differentiation and inflammation. The causes leading to altered gene expression in placentas of sickle cell patients are not fully understood, but the presence of intravascular hemolysis and vaso-occlusion, with cycles of ischemia and reperfusion, may contribute to the emergence of an environment which can be very harmful for placental physiology, altering the nutrient supply and metabolic exchange for fetal growth.
镰状细胞病(SCD)是一组疾病,其共同特征是红细胞中存在血红蛋白(Hb)S。这种异常的主要后果是血管阻塞,这可能影响包括胎盘在内的几乎所有器官。本研究旨在通过总 RNA 测序评估 SCD 孕妇胎盘的基因表达谱。为此,我们提出了一项病例对照研究,有三组孕妇:HbSS(n=10)、HbSC(n=14)和 HbAA(n=21)。结果显示,NOS2(倍数变化,FC=4.52)、HLAG(FC=5.56)、ASCL2(FC=3.61)、CXCL10(FC=-3.66)和 IL1R2(FC=3.92)等多个基因在 HbSC 组中的表达存在差异,而 S100A8(FC=-3.82)、CPXM2(FC=4.57)、CXCL10(FC=-4.59)、CXCL11(FC=-3.72)和 CAMP(FC=-4.55)等基因在 HbSS 组中的表达存在差异。差异表达的基因主要与迁移、滋养层分化和炎症有关。导致镰状细胞病患者胎盘基因表达改变的原因尚不完全清楚,但血管内溶血和血管阻塞的存在,以及缺血和再灌注的循环,可能导致对胎盘生理学非常有害的环境的出现,改变胎儿生长的营养供应和代谢交换。