Department of Genetics, Federal University of Pernambuco, Av. Prof. Moraes Rego, 1235, Recife, PE, 50670-901, Brazil.
Department of Internal Medicine, Medical School of Ribeirao Preto and Centre for Cell-Based Therapy, University of São Paulo, Ribeirao Preto, SP, 14051140, Brazil.
Ann Hematol. 2022 Feb;101(2):281-287. doi: 10.1007/s00277-021-04696-5. Epub 2021 Oct 14.
One of the physiologic mechanisms responsible to maintain asymmetric phospholipid distribution (in particular phosphatidylserine, PS) in human erythrocyte membranes is orchestrated by the balance between enzymes responsible for active transport of PS from the outer to the inner leaflet (ATP11C) and those whose counteracts these activities (PLSCR1). Using quantitative real-time polymerase chain reaction and standard flow cytometry procedures, we hypothesized that the aberrant expression of either or both ATP11C and PLSCR1 transcripts may disrupt the PS internalization/externalization process and become clinically relevant for patients with sickle cell anemia (SCA). Overall, neither ATP11C/PLSCR1 ratio or ATP11C and PLSCR1 (if analyzed separately) had impact on risk to present acute or chronic organ damage in 178 patients with SCA. By collecting a new set of samples from SCA patients during a vaso-occlusive crisis (VOC, crisis state, 13 patients) and comparing with new samples of patients in steady state (15 patients), we noticed that patients in steady state exhibited mean values of ATP11C/PLSCR1 ratio significantly higher (mean value: 18.2, range, 0.3-53) than those who were in crisis (mean value: 3.7, range, 0.5-9) (P = 0.013). Most importantly, there was a strong inverse correlation between PS exposure and ATP11C/PLSCR1 ratio in sickle erythrocytes (Pearson correlation coefficient, r: - 0.78). Based on these findings, it is conceivable that the ATP11C/PLSCR1 ratio may switch from high to low during a VOC, although the underlying reasons require further investigations.
一种维持人类红细胞膜不对称磷脂分布(特别是磷脂酰丝氨酸,PS)的生理机制是由负责 PS 从外向内膜主动转运的酶(ATP11C)与拮抗这些活性的酶(PLSCR1)之间的平衡来协调的。使用定量实时聚合酶链反应和标准流式细胞术程序,我们假设异常表达 ATP11C 和 PLSCR1 转录本中的任一种或两种都可能破坏 PS 的内化/外排过程,并对镰状细胞贫血(SCA)患者具有临床相关性。总体而言,在 178 例 SCA 患者中,ATP11C/PLSCR1 比值或 ATP11C 和 PLSCR1(如果单独分析)均不会影响发生急性或慢性器官损伤的风险。通过从 SCA 患者在血管阻塞性危象(VOC,危机状态,13 例)期间收集一组新的样本,并与稳定状态的患者(15 例)的新样本进行比较,我们注意到稳定状态的患者的 ATP11C/PLSCR1 比值平均值明显高于处于危机状态的患者(平均值:18.2,范围,0.3-53)(P=0.013)。最重要的是,镰状红细胞中的 PS 暴露与 ATP11C/PLSCR1 比值之间存在很强的负相关(皮尔逊相关系数,r:-0.78)。基于这些发现,可以想象在 VOC 期间,ATP11C/PLSCR1 比值可能从高变为低,尽管这背后的原因需要进一步研究。