Biosystems & Integrative Sciences Institute (BioISI), Faculty of Sciences, University of Lisbon, 1749-016 Lisbon, Portugal.
Department of Chemistry, Pontifical Catholic University of Rio de Janeiro (PUC-Rio), Rio de Janeiro 22435-900, RJ, Brazil.
Molecules. 2024 Feb 10;29(4):821. doi: 10.3390/molecules29040821.
The monogenic rare disease Cystic Fibrosis (CF) is caused by mutations in the gene encoding the CF transmembrane conductance (CFTR) protein, an anion channel expressed at the apical plasma membrane of epithelial cells. The discovery and subsequent development of CFTR modulators-small molecules acting on the basic molecular defect in CF-have revolutionized the standard of care for people with CF (PwCF), thus drastically improving their clinical features, prognosis, and quality of life. Currently, four of these drugs are approved for clinical use: potentiator ivacaftor (VX-770) alone or in combination with correctors lumacaftor, (VX-809), tezacaftor (VX-661), and elexacaftor (VX-445). Noteworthily, the triple combinatorial therapy composed of ivacaftor, tezacaftor, and elexacaftor constitutes the most effective modulator therapy nowadays for the majority of PwCF. In this review, we exploit the organic synthesis of ivacaftor, tezacaftor, and elexacaftor by providing a retrosynthetic drug analysis for these CFTR modulators. Furthermore, we describe the current understanding of the mechanisms of action (MoA's) of these compounds by discussing several studies that report the key findings on the molecular mechanisms underlying their action on the CFTR protein.
常染色体隐性遗传罕见病囊性纤维化(CF)是由编码 CF 跨膜电导(CFTR)蛋白的基因突变引起的,CFTR 蛋白是一种阴离子通道,表达在上皮细胞的顶膜上。CFTR 调节剂(作用于 CF 基本分子缺陷的小分子)的发现和随后的发展彻底改变了 CF 患者(PwCF)的护理标准,从而显著改善了他们的临床特征、预后和生活质量。目前,有四种此类药物被批准用于临床使用:单独或与校正剂 lumacaftor(VX-809)、tezacaftor(VX-661)和 elexacaftor(VX-445)联合使用的增效剂 ivacaftor(VX-770)。值得注意的是,由 ivacaftor、tezacaftor 和 elexacaftor 组成的三联组合疗法是目前大多数 PwCF 最有效的调节剂疗法。在这篇综述中,我们通过对这些 CFTR 调节剂进行回溯性药物分析,利用 ivacaftor、tezacaftor 和 elexacaftor 的有机合成来阐述它们。此外,我们通过讨论几项报告了这些化合物作用于 CFTR 蛋白的分子机制的关键发现的研究,描述了对这些化合物作用机制(MoA)的当前理解。