†Epithelial Cell Biology Research Center, School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Shatin, NT, Hong Kong.
Cell Biol Int. 2011 May;35(5):463-6. doi: 10.1042/CBI20100664.
CF (cystic fibrosis) is a recessive genetic disease caused by mutations of the CFTR (cystic fibrosis transmembrane conductance regulator), a cAMP-activated anion channel, exhibiting a multitude of clinical manifestations including lung inflammation/infection, pancreatic insufficiency/diabetes, intestinal obstruction and infertility in both sexes. While mutation DF508 is found in 70% of CF patients, large variation in disease phenotypes and severity is observed among the patients. This review discusses current theories accounting for the disease variations and puts forth an epigenetic hypothesis involving microRNAs.
囊性纤维化（CF）是一种由 CFTR（囊性纤维化跨膜电导调节因子）基因突变引起的隐性遗传病，该基因编码 cAMP 激活的阴离子通道，表现出多种临床表现，包括肺部炎症/感染、胰腺功能不全/糖尿病、男女两性的肠梗阻和不育。虽然在 70%的 CF 患者中发现了 DF508 突变，但患者的疾病表型和严重程度存在很大差异。本文综述了目前解释疾病变异的理论，并提出了一个涉及 microRNAs 的表观遗传假说。
