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Updated: Jun 8, 2026

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts
Published on: May 11, 2018
Spinal muscular atrophy: a new player joins the battle for SMN2 exon 7 splicing
Simona Pedrotti1, Claudio Sette
1Department of Public Health and Cell Biology, University of Rome Tor Vergata, Laboratory of Neuroembryology at CERC, Fondazione Santa Lucia, Rome, Italy.
Abstract:
Spinal Muscular Atrophy (SMA) is a neurodegenerative disease with high impact in the human population, being the leading genetic cause of death in infancy. No cure is currently available for SMA, raising interest in the development of novel therapeutic strategies for this disease. Much of the effort in this sense has been aimed at increasing the SMN2-derived transcript levels, either by improving transcription rate or by reprogramming exon 7 splicing. Herein, we discuss recent findings on the regulation of SMN2 gene expression, focusing on splicing modulation as a therapeutic target. We review the literature regarding splicing factors involved in the regulation of exon 7 splicing in SMN2, and discuss the role played in this process by the RNA binding protein Sam68, a novel crucial regulator of SMN2 splicing.
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