Targeting the 5′ untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy

Abstract excerpt

Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by mutations in the survival motor neuron 1 ( SMN1 ) gene. All patients have at least one copy of a paralog, SMN2 , but a C-to-T transition in this gene results in exon 7 skipping in a majority of transcripts. Approved treatment for SMA involves promoting exon 7 inclusion in the SMN2 transcript or increasing the amount of full-length SMN by gene...

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