Dobi Dorina, Rimessi Alessandro, Loberto Nicoletta, Mauri Laura, Bassi Rosaria, Chiricozzi Elena, Olioso Debora, Pellielo Giulia, Pinton Paolo, Bezzerri Valentino, Cabrini Giulio, Lippi Giuseppe, Tamanini Anna, Lunghi Giulia, Aureli Massimo
Department of Medical Biotechnology and Translational Medicine, University of Milano, Milano, Italy.
Center of Research for Innovative Therapies in Cystic Fibrosis, University of Ferrara, Ferrara, Italy.
Glycoconj J. 2025 Jul 15. doi: 10.1007/s10719-025-10191-0.
Cystic Fibrosis (CF), a life-threatening hereditary disease, arises from mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene, which encodes a chloride-conducting channel widely expressed in epithelial cells. The most common mutation, F508del, causes CFTR misfolding, premature degradation, and impaired mucociliary clearance, leading to recurrent respiratory infections and inflammation. The triple combination therapy with Elexacaftor, Tezacaftor, and Ivacaftor (ETI) has revolutionized CF management by partially restoring mutated CFTR function. However, enhancing CFTR rescue and stabilizing host immune responses remain critical challenges. In airway epithelial cells, CFTR interacts with proteins and lipids in macromolecular complexes that influence its stability. Among these, the ganglioside GM1 plays a key role in modulating plasma membrane protein dynamics, including CFTR. This study investigates the effects of exogenous GM1 supplementation as an adjuvant to ETI treatment. Our results demonstrate that GM1 enhances F508del-CFTR maturation and stability, even under Pseudomonas aeruginosa infection, which typically suppresses CFTR expression and function. Furthermore, GM1 restores xenophagic activity in bronchial epithelial cells, improving host defence mechanisms against the bacteria. These findings underscore the therapeutic potential of GM1 and its analogues in optimizing the plasma membrane environment for CFTR correction, suggesting that by enhancing the efficacy of CFTR modulators, GM1 could pave the way for innovative approaches to improve CF management.
囊性纤维化(CF)是一种危及生命的遗传性疾病,由囊性纤维化跨膜传导调节因子(CFTR)基因突变引起,该基因编码一种在上皮细胞中广泛表达的氯离子传导通道。最常见的突变F508del会导致CFTR错误折叠、过早降解以及黏液纤毛清除功能受损,从而导致反复的呼吸道感染和炎症。依列卡福、替扎卡福和依伐卡福三联疗法(ETI)通过部分恢复突变的CFTR功能,彻底改变了CF的治疗方式。然而,增强CFTR挽救和稳定宿主免疫反应仍然是关键挑战。在气道上皮细胞中,CFTR与影响其稳定性的大分子复合物中的蛋白质和脂质相互作用。其中,神经节苷脂GM1在调节包括CFTR在内的质膜蛋白动力学中起关键作用。本研究调查了外源性补充GM1作为ETI治疗辅助手段的效果。我们的结果表明,即使在铜绿假单胞菌感染(通常会抑制CFTR表达和功能)的情况下,GM1也能增强F508del-CFTR的成熟和稳定性。此外,GM1恢复了支气管上皮细胞中的异噬活性,改善了宿主对细菌的防御机制。这些发现强调了GM1及其类似物在优化质膜环境以纠正CFTR方面的治疗潜力,表明通过增强CFTR调节剂的疗效,GM1可以为改善CF治疗的创新方法铺平道路。