Anticodon-edited tRNA enables translational readthrough of COL4A5 premature termination codons.

ABSTRACT: Alport syndrome is caused by variants in COL4A3, COL4A4, or COL4A5, which encode the α3α4α5 chains of type IV collagen. These variants result in defects in the glomerular basement membrane (GBM) and impaired kidney function. Nonsense variants result in truncated proteins lacking the NC1 domain, thereby preventing proper GBM assembly and function and causing the most severe forms of the disease. Restoring full-length protein expression represents a potential therapeutic strategy for Alport syndrome and related disorders. Anticodon-edited transfer RNAs (ACE-tRNAs), which promote premature termination codon (PTC) readthrough, have shown promise in diseases such as cystic fibrosis, but their application in Alport syndrome remains unexplored. To assess the potential of ACE-tRNAs for PTC readthr

SUBMITTER: Omachi K 

PROVIDER: S-EPMC12716684 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature