Zulueta Aida, Dei Cas Michele, Luciano Francesco, Mingione Alessandra, Pivari Francesca, Righi Ilaria, Morlacchi Letizia, Rosso Lorenzo, Signorelli Paola, Ghidoni Riccardo, Paroni Rita, Caretti Anna
Biochemistry and Molecular Biology Laboratory, Department of Health Sciences, University of Milan, 20142 Milan, Italy.
Clinical Biochemistry and Mass Spectrometry Laboratory, Department of Health Sciences, University of Milan, 20142 Milan, Italy.
Biomedicines. 2021 Aug 31;9(9):1121. doi: 10.3390/biomedicines9091121.
The role of S1P in Cystic Fibrosis (CF) has been investigated since 2001, when it was first described that the CFTR channel regulates the inward transport of S1P. From then on, various studies have associated F508del CFTR, the most frequent mutation in CF patients, with altered S1P expression in tissue and plasma. We found that human bronchial epithelial immortalized and primary cells from CF patients express more S1P than the control cells, as evidenced by mass spectrometry analysis. S1P accumulation relies on two- to four-fold transcriptional up-regulation of SphK1 and simultaneous halving of SGPL1 in CF vs. control cells. The reduction of SGPL1 transcription protects S1P from irreversible degradation, but the excessive accumulation is partially prevented by the action of the two phosphatases that are up-regulated compared to control cells. For the first time in CF, we describe that Spns2, a non-ATP dependent transporter that normally extrudes S1P out of the cells, shows deficient transcriptional and protein expression, thus impairing S1P accrual dissipation. The in vitro data on CF human bronchial epithelia correlates with the impaired expression of Spns2 observed in CF human lung biopsies compared to healthy control.
自2001年以来,人们一直在研究鞘氨醇-1-磷酸(S1P)在囊性纤维化(CF)中的作用,当时首次发现囊性纤维化跨膜传导调节因子(CFTR)通道可调节S1P的内向转运。从那时起,各种研究将CF患者中最常见的突变F508del CFTR与组织和血浆中S1P表达的改变联系起来。我们发现,通过质谱分析证明,来自CF患者的永生化人支气管上皮细胞和原代细胞比对照细胞表达更多的S1P。与对照细胞相比,CF细胞中S1P的积累依赖于鞘氨醇激酶1(SphK1)转录上调两到四倍以及鞘氨醇-1-磷酸磷酸酶(SGPL1)同时减半。SGPL1转录的减少保护S1P不被不可逆降解,但与对照细胞相比上调的两种磷酸酶的作用部分阻止了S1P的过度积累。在CF中,我们首次描述了Spns2,一种通常将S1P排出细胞的非ATP依赖性转运蛋白,其转录和蛋白表达不足,从而损害了S1P积累的消散。关于CF人支气管上皮的体外数据与在CF人肺活检中观察到的与健康对照相比Spns2表达受损相关。