Abstract
Spinal muscular atrophy (SMA) is an inherited motor neuron disease caused by mutation of the telomeric copy of the survival motor neuron gene (SMN1). Although a centromeric copy of the survival motor neuron gene (SMN2) is retained in all patients with SMA, it differs from SMN1 at a critical nucleotide such that the majority of SMN2 transcripts lack exon 7 and encode an unstable, truncated protein. Here, we show that valproic acid increases levels of exon 7-containing SMN transcript and SMN protein in type I SMA patient-derived fibroblast cell lines. Valproic acid may increase SMN levels both by activating the SMN promoter and by preventing exon 7 skipping in SMN transcripts. Valproic acid and related compounds warrant further investigation as potential treatment for SMA.
Original language | English (US) |
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Pages (from-to) | 647-654 |
Number of pages | 8 |
Journal | Annals of neurology |
Volume | 54 |
Issue number | 5 |
DOIs | |
State | Published - Nov 2003 |
Externally published | Yes |
ASJC Scopus subject areas
- Neurology
- Clinical Neurology