Higgins C F
Imperial Cancer Research Laboratories, University of Oxford, John Radcliffe Hospital, UK.
Br Med Bull. 1992 Oct;48(4):754-65. doi: 10.1093/oxfordjournals.bmb.a072576.
Since the identification of the CF gene, less than 3 years ago, progress in analysing the function of its product, the cystic fibrosis transmembrane conductance regulator (CFTR), has been remarkable. It is now clear that CFTR functions as a small conductance chloride channel in epithelial membranes. However, many other questions remain unanswered. How does a defect in this channel result in the various pathologies associated with cystic fibrosis? Does CFTR have additional functions? How do CF mutations alter the function of the protein? Tools are now available to address these and other questions. Many features of CFTR activity suggest that pharmacological interventions may be possible. Nevertheless, an enhanced understanding of CFTR function is still essential before this basic research will provide direct benefit to CF sufferers.
自不到3年前鉴定出囊性纤维化（CF）基因以来，在分析其产物囊性纤维化跨膜传导调节因子（CFTR）的功能方面取得了显著进展。现在已经明确，CFTR在上皮细胞膜中作为一个小电导氯离子通道发挥作用。然而，许多其他问题仍未得到解答。该通道的缺陷如何导致与囊性纤维化相关的各种病理状况？CFTR是否具有其他功能？CF突变如何改变蛋白质的功能？现在已有工具来解决这些及其他问题。CFTR活性的许多特征表明可能进行药物干预。尽管如此，在这项基础研究能直接造福CF患者之前，对CFTR功能的深入理解仍然至关重要。
