AAV-delivered suppressor tRNA overcomes a nonsense mutation in mice (ribosome profiling)

In this study, we utilized a mouse model of mucopolysaccharidosis type I (MPS-I) carrying a homozygous nonsense mutation in the Idua gene (Idua-W401X, TGG→TAG) to develop rAAV-delivered sup-tRNA therapeutics that can overcome a pathogenic UAG premature termination codon (PTC). Liver ribosome profilings in sup-tRNA treated and untreated homozygous Idua-W401X mice and patient fibroblasts.