RNA processing and function

RNA processing and function encompass the essential cellular pathways that transform primary RNA transcripts into mature, functional molecules. These processes include 5' capping, pre-mRNA splicing, 3' polyadenylation, and RNA editing, which collectively ensure the fidelity and diversity of the proteome (Alberts et al., 2002). Dysregulation of RNA processing is a hallmark of various pathologies, including cancer, where aberrant splicing can generate oncogenic isoforms, and neurodegenerative diseases like spinal muscular atrophy (SMA) (Scotti & Swanson, 2016). Therapeutic strategies targeting these pathways have evolved rapidly, utilizing antisense oligonucleotides (ASOs) and small molecule splicing modifiers to correct genetic defects or modulate protein expression (Crooke et al., 2021). For instance, drugs like Nusinersen and Risdiplam target the SMN2 gene's splicing to treat SMA by increasing the production of functional SMN protein (Ratni et al., 2018). Other approaches include exon skipping for Duchenne muscular dystrophy, where ASOs like Eteplirsen restore the reading frame of the dystrophin gene (Lim et al., 2017). While these interventions offer transformative potential, they face challenges such as achieving tissue-specific delivery and minimizing off-target effects on the broader transcriptome.

Other names

RNA metabolismPost-transcriptional processingRNA maturationRNA modification

Modulation of pre-mRNA splicing, exon skipping, exon inclusion, and RNA interference to restore or alter protein expression (Crooke et al., 2021).