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2-Guanidino-quinazoline promotes the readthrough of nonsense mutations underlying human genetic diseases
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2-Guanidino-quinazoline promotes the readthrough of nonsense mutations underlying human genetic diseases
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Journal Article
2-Guanidino-quinazoline promotes the readthrough of nonsense mutations underlying human genetic diseases
2022
Overview
Premature termination codons (PTCs) account for 10 to 20% of genetic diseases in humans. The gene inactivation resulting from PTCs can be counteracted by the use of drugs stimulating PTC readthrough, thereby restoring production of the full-length protein. However, a greater chemical variety of readthrough inducers is required to broaden the medical applications of this therapeutic strategy. In this study, we developed a reporter cell line and performed high-throughput screening (HTS) to identify potential readthrough inducers. After three successive assays, we isolated 2-guanidinoquinazoline (TLN468). We assessed the clinical potential of this drug as a potent readthrough inducer on the 40 PTCs most frequently responsible for Duchenne muscular dystrophy (DMD). We found that TLN468 was more efficient than gentamicin, and acted on a broader range of sequences, without inducing the readthrough of normal stop codons (TC).
Publisher
National Academy of Sciences
Subject
/ Codon, Nonsense - drug effects
/ Codon, Terminator - drug effects
/ Codon, Terminator - genetics
/ Codons
/ Drug Evaluation, Preclinical
/ Duchenne's muscular dystrophy
/ Genes, Reporter - drug effects
/ Genetic Diseases, Inborn - drug therapy
/ Genetic Diseases, Inborn - genetics
/ Genetics
/ High-Throughput Screening Assays
/ Humans
/ Muscular Dystrophy, Duchenne - drug therapy
/ Muscular Dystrophy, Duchenne - genetics
/ Mutation
