CFTR 无义突变导致的囊性纤维化在肠道类器官中，通读试剂对提前终止密码子的抑制作用有限。
Limited premature termination codon suppression by read-through agents in cystic fibrosis intestinal organoids.
机构信息
Laboratory of Translational Immunology, UMC Utrecht, The Netherlands.
Dept of Pediatrics, Sophia Children's Hospital/Erasmus MC-University Medical Center, Rotterdam, The Netherlands.
出版信息
J Cyst Fibros. 2016 Mar;15(2):158-62. doi: 10.1016/j.jcf.2015.07.007. Epub 2015 Aug 5.
Premature termination codon read-through drugs offer opportunities for treatment of multiple rare genetic diseases including cystic fibrosis. We here analyzed the read-through efficacy of PTC124 and G418 using human cystic fibrosis intestinal organoids (E60X/4015delATTT, E60X/F508del, G542X/F508del, R1162X/F508del, W1282X/F508del and F508del/F508del). G418-mediated read-through induced only limited CFTR function, but functional restoration of CFTR by PTC124 could not be confirmed. These studies suggest that better read-through agents are needed for robust treatment of nonsense mutations in cystic fibrosis.
提前终止密码子通读药物为包括囊性纤维化在内的多种罕见遗传病的治疗提供了机会。我们在此使用人类囊性纤维化肠类器官（E60X/4015delATTT、E60X/F508del、G542X/F508del、R1162X/F508del、W1282X/F508del 和 F508del/F508del）分析了 PTC124 和 G418 的通读效果。G418 介导的通读仅诱导有限的 CFTR 功能，但不能确认 PTC124 对 CFTR 的功能恢复。这些研究表明，需要更好的通读剂来有效治疗囊性纤维化中的无意义突变。
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