E-mail: florian. In eukaryotic cells, RNA splicing is crucial for gene expression. Dysregulation of this process can result in incorrect mRNA processing, leading to aberrant gene expression patterns. Such abnormalities are implicated in many inherited diseases and cancers.
Historically, antisense oligonucleotides, which bind to specific RNA targets, have been used to correct these splicing abnormalities. Despite their high specificity of action, these oligonucleotides have drawbacks, such as lack of oral bioavailability and the need for chemical modifications to enhance cellular uptake and stability. As a result, recent efforts focused on the development of small organic molecules that can correct abnormal RNA splicing event under disease conditions.
This review discusses known and potential targets of these molecules, including RNA structures, trans -acting splicing factors, and the spliceosome β the macromolecular complex responsible for RNA splicing. We also rely on recent advances to discuss therapeutic applications of RNA-targeting small molecules in splicing correction.
Overall, this review presents an update on strategies for RNA splicing modulation, emphasizing the therapeutic promise of small molecules. Correct gene expression is closely tied to physiological splicing patterns. These patterns can vary depending on the tissue type and on the developmental stages, as well as in other situations. Mutations in these factors are often linked to the onset and progression of cancers.
This can lead to incorrect splicing patterns. Such patterns can underlie various diseases. For example, aberrant splicing is implicated in inherited conditions like Huntington's disease, a rare neurdegenative disorder.
