Signalisation et Transports Ioniques Membranaires, ERL CNRS 7368, Université de Poitiers, Poitiers, France.
Ecologie et Biologie des Interactions, UMR CNRS 7267, Université de Poitiers, Poitiers, France.
PLoS One. 2014 Feb 19;9(2):e89044. doi: 10.1371/journal.pone.0089044. eCollection 2014.
The F508del-CFTR mutation, responsible for Cystic Fibrosis (CF), leads to the retention of the protein in the endoplasmic reticulum (ER). The mistrafficking of this mutant form can be corrected by pharmacological chaperones, but these molecules showed limitations in clinical trials. We therefore hypothesized that important factors in CF patients may have not been considered in the in vitro assays. CF has also been associated with an altered lipid homeostasis, i. e. a decrease in polyunsaturated fatty acid levels in plasma and tissues. However, the precise fatty acyl content of membrane phospholipids from human CF bronchial epithelial cells had not been studied to date. Since the saturation level of phospholipids can modulate crucial membrane properties, with potential impacts on membrane protein folding/trafficking, we analyzed this parameter for freshly isolated bronchial epithelial cells from CF patients. Interestingly, we could show that Palmitate, a saturated fatty acid, accumulates within Phosphatidylcholine (PC) in CF freshly isolated cells, in a process that could result from hypoxia. The observed PC pattern can be recapitulated in the CFBE41o(-) cell line by incubation with 100 µM Palmitate. At this concentration, Palmitate induces an ER stress, impacts calcium homeostasis and leads to a decrease in the activity of the corrected F508del-CFTR. Overall, these data suggest that bronchial epithelial cells are lipointoxicated by hypoxia-related Palmitate accumulation in CF patients. We propose that this phenomenon could be an important bottleneck for F508del-CFTR trafficking correction by pharmacological agents in clinical trials.
F508del-CFTR 突变导致囊性纤维化(CF),导致蛋白质在内质网(ER)中滞留。这种突变形式的错误运输可以通过药理学伴侣来纠正,但这些分子在临床试验中显示出局限性。因此,我们假设在体外试验中可能没有考虑到 CF 患者的重要因素。CF 还与脂质稳态的改变有关,即血浆和组织中多不饱和脂肪酸水平降低。然而,迄今为止,尚未研究来自人 CF 支气管上皮细胞的膜磷酯酰基的准确脂肪酸含量。由于磷酯酰基的饱和度可以调节关键的膜性质,从而对膜蛋白折叠/运输产生潜在影响,因此我们分析了 CF 患者新鲜分离的支气管上皮细胞的这个参数。有趣的是,我们可以证明棕榈酸(一种饱和脂肪酸)在 CF 新鲜分离细胞的磷酯酰胆碱(PC)中积累,这一过程可能是由于缺氧引起的。在 CFBE41o(-)细胞系中,通过用 100 µM 棕榈酸孵育可以重现观察到的 PC 模式。在这个浓度下,棕榈酸会诱导内质网应激,影响钙稳态,并导致纠正后的 F508del-CFTR 活性下降。总的来说,这些数据表明,在 CF 患者中,缺氧相关的棕榈酸积累会使支气管上皮细胞发生脂毒性。我们提出,这种现象可能是药理学药物在临床试验中纠正 F508del-CFTR 运输的一个重要瓶颈。