AAV.NoSTOP UGA-sup-tRNA

AAV.NoSTOP UGA-sup-tRNA is an experimental gene therapy developed by researchers at the University of Massachusetts Chan Medical School. It utilizes a recombinant adeno-associated virus (rAAV) vector to deliver an engineered UGA suppressor transfer RNA (sup-tRNA) gene. This therapy is designed to address nonsense mutations, which account for approximately 11% of human pathogenic mutations, by enabling the readthrough of premature termination codons (PTCs). Specifically, this UGA-sup-tRNA inserts arginine at UGA stop codons, which frequently result from C-to-T transitions in arginine codons (CGA to UGA). Beyond promoting protein translation, the therapy also increases mutant mRNA abundance by inhibiting nonsense-mediated mRNA decay (NMD). It is intended as a disease-agnostic platform, with preclinical efficacy demonstrated in models of lysosomal storage disorders like neuronal ceroid lipofuscinosis type 2 (CLN2), as well as potential applications in Duchenne muscular dystrophy and Rett syndrome.

Other names

AAV-delivered nonsense suppressor tRNA operating on PTC