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MicroRNAs and cystic fibrosis--an epigenetic perspective.

机译:MicroRNA和囊性纤维化-表观遗传学观点

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摘要

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.
机译:CF(囊性纤维化)是一种隐性遗传疾病,是由CFTR(囊性纤维化跨膜电导调节剂)(一种cAMP激活的阴离子通道)的突变引起的,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,肠梗阻和男女不育。尽管在70%的CF患者中发现了DF508突变,但在患者中发现了疾病表型和严重程度的巨大差异。这篇综述讨论了当前有关疾病变异的理论,并提出了涉及微小RNA的表观遗传学假设。

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