Molecular Approaches Fighting Nonsense II
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: closed (31 October 2023) | Viewed by 2517
Special Issue Editors
Interests: synthesis of heterocyclic compounds; heterocyclic chemistry; medicinal and pharmaceutical chemistry; synthetic medicinal chemistry; natural product chemistry; materials chemistry; applied organic chemistry
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Dear Colleagues,
Nonsense mutations are a genetic change involved in about 10% of genetic diseases (cystic fibrosis, Duchenne muscular dystrophy, b-thalassemia, retinitis pigmentosa, congenital blindness, dystonia, spinal muscular atrophy, neurofibromatosis, lysosomal storage disease, Usher’s syndrome, hemophilia, Tay–Sachs disease, Schwackman Diamond syndrome, etc.).
This change causes the formation of a premature termination codon (PTC) in the mRNA encoded by a specific gene. This particular class of mutations is usually associated with a reduction in the level of cytoplasmic mRNA by the nonsense-mediated decay pathway (NMD).Therefore, the main problem caused by this genetic alteration is twofold: on the one hand, the reduced concentration of transcript, and on the other hand, the production of an unfunctional truncated polypeptide. To overcome these problems, different approaches have been proposed. One of the first strategies proposed is the readthrough approach, with the identification and use of small molecules, named translational readthrough-inducing drugs (TRIDs), allowing the overcoming of the premature stop codon. Another way is genetic editing by CRISPR technology, working on the genetic defect. Finally, a very recent emergent approach is the use of synthetic tRNA, able to recognize the premature stop codon during the translation process.
Pharmacological approaches to nonsense suppression are a fascinating field in view of a wider application to different genetic diseases whose common denominator is the presence of a premature stop codon in the mRNA.
In this Special Issue, we aim to collect different contributions in the form of recent and innovative research in the field of nonsense mutations.
Dr. Ivana Pibiri
Dr. Laura Lentini
Guest Editors
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