Abstract
Spinal muscular atrophy (SMA) is a motor neuron disease caused by homozygous loss of the survival motor neuron gene (SMN1). A highly related form of this gene, SMN2, is retained in variable copy number in all SMA patients and modulates the severity of the disease. Due to a silent mutation, SMN2 mainly produces alternatively spliced transcripts lacking exon 7 and only cca 10% of the full-length protein identical to SMN1. Increasing SMN2 gene expression and/or restoration of SMN2 splicing towards the full-length mRNA may be strategies for SMA treatment.
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