Collins F S
Department of Internal Medicine, University of Michigan, Ann Arbor 48109-0650.
Science. 1992 May 8;256(5058):774-9. doi: 10.1126/science.1375392.
Cystic fibrosis is the most common potentially lethal autosomal recessive disease of Caucasians, affecting 1 in 2500 newborns. Since the recent identification of the gene that is defective in patients with cystic fibrosis, a wealth of information about gene structure, the mutational basis of disease, and the function of the protein product has been derived. The product of the gene is a chloride channel that is regulated by adenosine 3',5'-monophosphate (cyclic AMP)-dependent protein kinase phosphorylation and that requires binding of adenosine triphosphate (ATP) for channel opening. Several new approaches to drug therapy for cystic fibrosis are now emerging, and the possibility of successful gene therapy by transfer of the normal gene to airway epithelial cells is being vigorously pursued.
囊性纤维化是白种人中最常见的潜在致死性常染色体隐性疾病，每2500名新生儿中就有1人患病。自从最近发现囊性纤维化患者存在缺陷的基因以来，已经获得了大量有关基因结构、疾病的突变基础以及蛋白质产物功能的信息。该基因的产物是一种氯离子通道，它受3',5'-环磷酸腺苷（环磷腺苷）依赖性蛋白激酶磷酸化调节，并且通道开放需要三磷酸腺苷（ATP）结合。目前正在出现几种治疗囊性纤维化的新药物疗法，并且正在积极探索通过将正常基因转移到气道上皮细胞进行成功基因治疗的可能性。
