Quon Bradley S, Wilcox Pearce G
Can Respir J. 2015 Sep-Oct;22(5):257-60. doi: 10.1155/2015/921712. Epub 2015 Jun 17.
The gene responsible for cystic fibrosis (CF) was discovered 25 years ago. This breakthrough has enabled a sophisticated understanding of how various mutations lead to specific alterations in the structure and function of the CF transmembrane regulator (CFTR) protein. Until recently, all therapies in CF were focused on ameliorating the downstream consequences of CFTR dysfunction. High-throughput drug screening approaches have yielded compounds that can modify CFTR structure and function, thus targeting the basic defect in CF. The present article describes the CFTR mutational classes, reviews mutation-specific therapies currently in late-phase clinical development, and highlights research opportunities and challenges with personalized medicine in CF.
导致囊性纤维化(CF)的基因于25年前被发现。这一突破使人们能够深入了解各种突变如何导致囊性纤维化跨膜传导调节因子(CFTR)蛋白的结构和功能发生特定改变。直到最近,CF的所有治疗方法都集中在改善CFTR功能障碍的下游后果上。高通量药物筛选方法已产生了能够改变CFTR结构和功能的化合物,从而针对CF的根本缺陷。本文描述了CFTR突变类型,回顾了目前处于临床后期开发阶段的针对特定突变的疗法,并强调了CF个性化医疗的研究机会和挑战。