Department of Medicine, Respiratory Division, Faculty of Medicine and Health Sciences, University of Sherbrooke, Sherbrooke, QC J1H 5N4, Canada.
Centre de Recherche du Centre Hospitalier Universitaire de Sherbrooke, Respiratory Division, Faculty of Medicine, University of Sherbrooke, 3001, 12e Avenue Nord, Sherbrooke, QC J1H 5N4, Canada.
Int J Mol Sci. 2021 Jun 8;22(12):6193. doi: 10.3390/ijms22126193.
Rare diseases affect 400 million individuals worldwide and cause significant morbidity and mortality. Finding solutions for rare diseases can be very challenging for physicians and researchers. Cystic fibrosis (CF), a genetic, autosomal recessive, multisystemic, life-limiting disease does not escape this sad reality. Despite phenomenal progress in our understanding of this disease, treatment remains difficult. Until recently, therapies for CF individuals were focused on symptom management. The discovery of the () gene and its product, a protein present at the apical surface of epithelial cells regulating ion transport, allowed the scientific community to learn about the basic defect in CF and to study potential therapies targeting the dysfunctional protein. In the past few years, promising therapies with the goal to restore CFTR function became available and changed the lives of several CF patients. These medications, called CFTR modulators, aim to correct, potentialize, stabilize or amplify CFTR function. Furthermore, research is ongoing to develop other targeted therapies that could be more efficient and benefit a larger proportion of the CF community. The purpose of this review is to summarize our current knowledge of CF genetics and therapies restoring CFTR function, particularly CFTR modulators and gene therapy.
罕见病影响全球 4 亿人，并导致严重的发病率和死亡率。对于医生和研究人员来说，为罕见病寻找解决方案可能极具挑战性。囊性纤维化 (CF) 是一种遗传性、常染色体隐性、多系统、危及生命的疾病，也无法逃避这一悲惨现实。尽管我们对这种疾病的认识有了显著的进步，但治疗仍然很困难。直到最近，CF 患者的治疗方法还集中在症状管理上。()基因及其产物的发现，即一种存在于上皮细胞顶表面调节离子转运的蛋白质，使科学界能够了解 CF 的基本缺陷，并研究针对功能失调蛋白的潜在治疗方法。在过去的几年中，有一些有希望的治疗方法旨在恢复 CFTR 功能，这些治疗方法改变了一些 CF 患者的生活。这些药物被称为 CFTR 调节剂，旨在纠正、增强、稳定或放大 CFTR 的功能。此外，正在进行研究以开发其他靶向疗法，这些疗法可能更有效，使更大比例的 CF 群体受益。本文综述的目的是总结我们目前对 CF 遗传学和恢复 CFTR 功能的治疗方法的认识，特别是 CFTR 调节剂和基因治疗。
