Survival motor neuron 2 pre-messenger RNA exon 7 (SMN2 exon 7)

Survival motor neuron 2 (SMN2) pre-messenger RNA (pre-mRNA) exon 7 is a critical regulatory region within the SMN2 gene transcript, serving as the primary therapeutic target for Spinal Muscular Atrophy (SMA) [1, 2]. SMA is a devastating neuromuscular disorder characterized by the loss of motor neurons, typically caused by mutations or deletions in the SMN1 gene [4, 10]. While humans possess the nearly identical SMN2 gene, a single C-to-T transition in exon 7 causes the majority of its transcripts to skip this exon, producing a truncated and unstable protein [2, 8]. Therapeutic strategies focus on modulating the splicing of this specific exon to ensure its inclusion in the mature mRNA, thereby increasing the production of full-length, functional SMN protein [5, 13]. Drugs such as Nusinersen, an antisense oligonucleotide, and Risdiplam, a small molecule, interact with this target or its flanking sequences to correct the splicing defect [2, 11]. This approach has revolutionized the treatment of SMA, demonstrating the clinical feasibility of modulating alternative splicing to treat genetic diseases [1, 15].

Other names

SMN2 exon 7Survival motor neuron 2 pre-mRNA exon 7SMN2 transcript exon 7

Modulation of pre-mRNA splicing to promote the inclusion of exon 7 in the mature SMN2 mRNA transcript, thereby increasing the production of full-length, functional survival motor neuron (SMN) protein [1, 2, 5].