Analytical Chemistry Lab, Istituto Italiano di Tecnologia, Genova, Italy.
L'Unità Operativa Complessa (UOC) Genetica Medica, Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS) Giannina Gaslini, Genova, Italy.
JCI Insight. 2020 Aug 20;5(16):138722. doi: 10.1172/jci.insight.138722.
In recent years, a number of drugs have been approved for the treatment of cystic fibrosis (CF). Among them, newly released Trikafta, a combination of 3 drugs (VX-661/VX-445/VX-770), holds great promise to radically improve the quality of life for a large portion of patients with CF carrying 1 copy of F508del, the most frequent CF transmembrane conductance regulator (CFTR) mutation. Currently available disease-modifying CF drugs work by rescuing the function of the mutated CFTR anion channel. Recent research has shown that membrane lipids, and the cell lipidome in general, play a significant role in the mechanism of CFTR-defective trafficking and, on the other hand, its rescue. In this paper, by using untargeted lipidomics on CFBE41o- cells, we identified distinctive changes in the bronchial epithelial cell lipidome associated with treatment with Trikafta and other CF drugs. Particularly interesting was the reduction of levels of ceramide, a known molecular player in the induction of apoptosis, which appeared to be associated with a decrease in the susceptibility of cells to undergo apoptosis. This evidence could account for additional beneficial roles of the triple combination of drugs on CF phenotypes.
近年来,已有多种药物获准用于囊性纤维化(CF)的治疗。其中,新发布的三联疗法 Trikafta(由三种药物 VX-661、VX-445 和 VX-770 组成)有望极大地改善携带最常见的 CF 跨膜电导调节因子(CFTR)突变 F508del 拷贝的大部分 CF 患者的生活质量。目前可用的疾病修正 CF 药物通过恢复突变 CFTR 阴离子通道的功能来发挥作用。最近的研究表明,膜脂类,以及一般的细胞脂类组,在 CFTR 缺陷运输的机制及其挽救中起着重要作用。在本文中,我们通过对 CFBE41o-细胞进行非靶向脂质组学分析,鉴定了与 Trikafta 和其他 CF 药物治疗相关的支气管上皮细胞脂质组的独特变化。特别有趣的是神经酰胺水平的降低,神经酰胺是诱导细胞凋亡的已知分子,这似乎与细胞对凋亡的易感性降低有关。这一证据可以解释这三种药物联合使用对 CF 表型的额外有益作用。