Department of Anatomy and Cell Biology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
Department of Pediatrics, Pappajohn Biomedical Institute, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
Hum Mol Genet. 2019 Oct 1;28(R1):R88-R94. doi: 10.1093/hmg/ddz139.
Cystic fibrosis (CF) is a multiorgan recessive genetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Gene therapy efforts have focused on treating the lung, since it manifests the most significant life-threatening disease. Over two decades have past since the first CF lung gene therapy trials and significant advances in the therapeutic implementation of pharmacologic CFTR modulators have renewed the field's focus on developing gene therapies for the 10% of CF patients these modulators cannot help. This review summarizes recent progress made in developing vectors for airway transduction and CF animal models required for understanding the relevant cellular targets in the lung and testing the efficacy of gene therapy approaches. We also highlight future opportunities in emerging gene editing strategies that may offer advantages for treating diseases like CF where the gene target is highly regulated at the cellular level. The outcomes of CF lung gene therapy trials will likely inform productive paths toward gene therapy for other complex genetic disorders, while also advancing treatments for all CF patients.
囊性纤维化(CF)是一种多器官隐性遗传疾病,由囊性纤维化跨膜电导调节因子(CFTR)基因突变引起。基因治疗的重点一直是治疗肺部,因为肺部表现出最具威胁生命的疾病。自首次 CF 肺部基因治疗试验以来已经过去了二十多年,药物 CFTR 调节剂在治疗中的显著进展重新引起了人们对开发针对这些调节剂无法帮助的 10% CF 患者的基因治疗的关注。这篇综述总结了用于气道转导的载体和 CF 动物模型的最新进展,这些模型对于理解肺部中的相关细胞靶标和测试基因治疗方法的疗效至关重要。我们还强调了新兴基因编辑策略的未来机会,这些策略可能为治疗 CF 等基因靶标在细胞水平受到高度调控的疾病提供优势。CF 肺部基因治疗试验的结果可能会为其他复杂遗传疾病的基因治疗提供有成效的途径,同时也为所有 CF 患者的治疗提供进展。