Suppr超能文献

囊性纤维化跨膜传导调节因子调节剂:开端的结束。

Cystic fibrosis transmembrane conductance regulator modulators: the end of the beginning.

作者信息

Barry Peter J, Ronan Nicola, Plant Barry J

机构信息

Manchester Adult Cystic Fibrosis Centre, University Hospital of South Manchester, Wythenshawe, United Kingdom.

Cork Adult Cystic Fibrosis Centre, University College Cork, Cork University Hospital, Wilton, Cork, Ireland.

出版信息

Semin Respir Crit Care Med. 2015 Apr;36(2):287-98. doi: 10.1055/s-0035-1546821. Epub 2015 Mar 31.

Abstract

Cystic fibrosis (CF) represents one of the success stories of modern medicine with sustained incremental increases in the survival from one of childhood death to one of adult survival into the middle decades over the past 30 years. Improving survival has focused on multidisciplinary management centered on treating the consequences of this genetic disease. It has been firmly established for more than 20 years that mutations in the CF transmembrane conductance regulator (CFTR) gene result in a defective protein that normally functions as a chloride channel on epithelial cell surfaces. Until recently, modulating CFTR dysfunction was only a research aspiration, however, greater focus placed upon addressing the primary defect of CF has developed several clinical therapeutic strategies in this area. This review highlights the evidence to date on efforts to modulate CFTR and restore robust functional protein to the cell surface. This approach has now led to the licensing of one CFTR potentiator, which has been shown to have significant clinical improvements in a subset of CF patients. This success represents the beginning for CFTR modulation and further research is ongoing which aims to broaden the applicability of these techniques.

摘要

囊性纤维化(CF)是现代医学的成功案例之一,在过去30年里,其生存率持续稳步提高,从儿童期死亡转变为成年期生存至中年。提高生存率的重点是围绕治疗这种遗传疾病后果的多学科管理。20多年来,人们已经明确,囊性纤维化跨膜传导调节因子(CFTR)基因突变会导致一种有缺陷的蛋白质,该蛋白质通常在上皮细胞表面作为氯离子通道发挥作用。直到最近,调节CFTR功能障碍还只是一个研究目标,然而,对解决CF主要缺陷的更多关注在该领域开发了几种临床治疗策略。这篇综述强调了迄今为止在调节CFTR以及将强大的功能性蛋白恢复到细胞表面方面所做努力的证据。这种方法现已导致一种CFTR增强剂获得许可,已证明该增强剂在一部分CF患者中具有显著的临床改善效果。这一成功代表了CFTR调节的开端,并且正在进行进一步的研究,旨在扩大这些技术的适用性。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验