Colledge W H, Evans M J
Wellcome/CRC Institute of Cancer and Developmental Biology, University of Cambridge, UK.
Br Med Bull. 1995 Jan;51(1):82-90. doi: 10.1093/oxfordjournals.bmb.a072955.
Cystic fibrosis is a common severe autosomal recessive genetic disease which is caused by dysfunction of an epithelial cell surface cAMP activated Cl- channel. The effects of this dysfunction are pleoitropic but the human morbidity results from the effects in the respiratory epithelium. Gene therapy is an attractive possible treatment, the gene required is well characterised and only low-level expression is required. The cellular target is accessible and the clinical effects of treatment should be readily assayable. This chapter reviews current proposals for suitable gene delivery mechanisms and vectors and discusses the clinical trials, the results from the first of which are now becoming available.
囊性纤维化是一种常见的严重常染色体隐性遗传病，由上皮细胞表面cAMP激活的氯离子通道功能障碍引起。这种功能障碍的影响是多效性的，但人类发病是由呼吸道上皮的影响导致的。基因治疗是一种有吸引力的可能治疗方法，所需基因已得到充分表征，只需要低水平表达。细胞靶点易于接近，治疗的临床效果应该很容易检测。本章综述了目前关于合适的基因传递机制和载体的提议，并讨论了临床试验，其中第一项试验的结果现已可用。
