Nusinersen

Nusinersen is an 18-mer, 2′-O- (2-methoxyethyl) phosphorothioate antisense oligonucleotide used for treating spinal muscular atrophy (SMA) . It binds specifically to the intronic splice silencer N1 (ISS-N1) site in intron 7 of SMN2 pre-mRNA, blocking the binding of splicing repressors hnRNP A1/A2. This promotes inclusion of exon 7 during splicing, restoring full-length SMN protein production in SMA patients.