Yoshimura K, Anzai C
Department of Gene Therapy, Institute of DNA Medicine, The Jikei University School of Medicine, Japan.
Nihon Rinsho. 1996 Mar;54(3):825-33.
Cystic fibrosis (CF), the most common fatal hereditary disorder in Caucasians, is caused by mutations of the CF transmembrane conductance regulator (CFTR) gene. The protein product encoded by the CFTR gene is a cyclic-AMP-regulated Cl- channel that is dependent on protein kinase phosphorylation and requires binding of ATP for channel opening, but may have additional functions. Although the most common mutation of the CFTR gene (DeltaF508) is found in approximately 70% of CF chromosomes, more than 400 other mutations of the gene have been documented. Several new therapeutic approaches including gene therapy by transfer of the normal CFTR gene to airway epithelium and protein replacement by reconstituting a recombinant functional CFTR protein into the membrane lipid bilayer are being extensively pursued.
囊性纤维化（CF）是白种人中最常见的致命性遗传疾病，由囊性纤维化跨膜传导调节因子（CFTR）基因突变引起。CFTR基因编码的蛋白质产物是一种受环磷酸腺苷调节的氯离子通道，它依赖于蛋白激酶磷酸化，通道开放需要ATP结合，但可能还有其他功能。尽管约70%的CF染色体中发现了CFTR基因最常见的突变（DeltaF508），但该基因还有400多种其他突变已被记录。目前正在广泛探索几种新的治疗方法，包括将正常CFTR基因转移至气道上皮进行基因治疗，以及将重组功能性CFTR蛋白重构到膜脂质双层中进行蛋白质替代治疗。
