Porter Joseph J, Ko Wooree, Sorensen Emily G, Lueck John D
Department of Pharmacology and Physiology, University of Rochester School of Medicine and Dentistry, 601 Elmwood Ave., Rochester, NY 14642, USA.
Department of Neurology, University of Rochester School of Medicine and Dentistry, 601 Elmwood Ave., Rochester, NY 14642, USA.
Nucleic Acids Res. 2024 Dec 11;52(22):14112-14132. doi: 10.1093/nar/gkae1112.
Nonsense suppressor transfer RNAs (tRNAs) or AntiCodon-Edited tRNAs (ACE-tRNAs) have long been envisioned as a therapeutic approach to overcome genetic diseases resulting from the introduction of premature termination codons (PTCs). The ACE-tRNA approach for the rescue of PTCs has been hampered by ineffective delivery through available modalities for gene therapy. Here we have screened a series of ACE-tRNA expression cassette sequence libraries containing >1800 members in an effort to optimize ACE-tRNA function and provide a roadmap for optimization in the future. By optimizing PTC suppression efficiency of ACE-tRNAs, we have decreased the amount of ACE-tRNA required by ∼16-fold for the most common cystic fibrosis-causing PTCs.
无义抑制转运RNA(tRNA)或反密码子编辑tRNA(ACE-tRNA)长期以来一直被视为一种治疗方法,用于克服由过早终止密码子(PTC)引入导致的遗传疾病。通过现有的基因治疗方式进行的无效递送阻碍了用于挽救PTC的ACE-tRNA方法。在这里,我们筛选了一系列包含超过1800个成员的ACE-tRNA表达盒序列文库,以优化ACE-tRNA功能,并为未来的优化提供路线图。通过优化ACE-tRNA的PTC抑制效率,我们将最常见的导致囊性纤维化的PTC所需的ACE-tRNA量减少了约16倍。