Optimization of ACE-tRNAs function in translation for suppression of nonsense mutations

Nucleic Acids Res. 2024 Dec 11;52(22):14112-14132. doi: 10.1093/nar/gkae1112.

Abstract

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.

MeSH terms

  • Anticodon / genetics
  • Codon, Nonsense* / genetics
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis / therapy
  • HEK293 Cells
  • Humans
  • Protein Biosynthesis* / genetics
  • RNA, Transfer* / genetics
  • RNA, Transfer* / metabolism

Substances

  • Codon, Nonsense
  • RNA, Transfer
  • Anticodon