化学
阿达尔
环状RNA
核糖核酸
无义突变
RNA编辑
突变
分子生物学
计算生物学
生物化学
基因
错义突变
生物
作者
Jinjin Wang,Wenjing Zhang,Qiuli Li,Wenjun Shi,Bingyu Li,Jingge Zhang,Yan Liang,Xucong Teng,Kaixiang Zhang
摘要
Nonsense mutations account for over 20% of disease-associated mutations, which refer to the occurrence of premature termination codons (PTCs) in gene sequences, resulting in truncated and dysfunctional proteins. Nonetheless, due to poor accessibility of precise target sites and the limitations of gene editing tools, there is still a lack of safe, effective, and site-specific approach for correction of nonsense mutations. Here, we designed a circular ADAR-recruiting RNA (Circ-arRNA) for the in vivo RNA editing-mediated repair of the TP53-W53X nonsense mutation. Compared with linear arRNA, Circ-RNA demonstrates strong intracellular stability and high efficiency for site-specific correction of the TP53-W53X nonsense mutant, with no detectable off-target effects on bystander bases. In triple-negative breast cancer TP53-W53X 4T1 cells and tumor-bearing mouse models, we used lipid nanoparticles (LNPs) to encapsulate and deliver Circ-arRNA, which achieved mutation correction efficiencies of 73.32 and 48.48%, respectively. Furthermore, Circ-arRNA LNPs effectively restored full-length p53 protein expression and its functional activity, significantly enhancing the sensitivity of tumor-bearing mice to paclitaxel chemotherapy. Our research demonstrated the safety and efficacy of LNP-based circular arRNA for specifically the repair of nonsense mutations in vivo, highlighting the immense potential of ADAR-mediated editing for correcting such mutations.
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