This aggregation of misfolded protein is influenced by patients’ age and genotype and has been proposed to play a detrimental role in disease progression [11]In contrast, Shademan et al. (2024), using OPMD animal and cell models as well as RNA from affected individuals, demonstrated that low levels of normal PABPN1 induce alternative splicing and production of shorter mRNA transcripts, consequently altering the muscle transcriptome [12]. This evidence concerns the gene PABPN1 and oculopharyngeal muscular dystrophy.