Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy

Hum Mol Genet. 2003 Oct 1;12(19):2481-9. doi: 10.1093/hmg/ddg256. Epub 2003 Jul 29.

Abstract

Proximal spinal muscular atrophy (SMA) is a common neuromuscular disorder causing infant death in half of all patients. Homozygous absence of the survival motor neuron gene (SMN1) is the primary cause of SMA, while SMA severity is mainly determined by the number of SMN2 copies. One SMN2 copy produces only about 10% of full-length protein identical to SMN1, whereas the majority of SMN2 transcripts is aberrantly spliced due to a silent mutation within an exonic splicing enhancer in exon 7. However, correct splicing can be restored by over-expression of the SR-like splicing factor Htra2-beta 1. We show that in fibroblast cultures derived from SMA patients treated with therapeutic doses (0.5-500 microM) of valproic acid (VPA), the level of full-length SMN2 mRNA/protein increased 2- to 4-fold. Importantly, this up-regulation of SMN could be most likely attributed to increased levels of Htra2-beta 1 which facilitates the correct splicing of SMN2 RNA as well as to an SMN gene transcription activation. Especially at low VPA concentrations, the restored SMN level depended on the number of SMN2 copies. Moreover, VPA was able to increase SMN protein levels through transcription activation in organotypic hippocampal brain slices from rats. Finally, VPA also increased the expression of further SR proteins, which may have important implications for other disorders affected by alternative splicing. Since VPA is a drug highly successfully used in long-term epilepsy therapy, our findings open the exciting perspective for a first causal therapy of an inherited disease by elevating the SMN2 transcription level and restoring its correct splicing.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Antibodies, Monoclonal / metabolism
  • Blotting, Western
  • Cells, Cultured
  • Dose-Response Relationship, Drug
  • Exons
  • Fibroblasts / drug effects
  • Fibroblasts / metabolism*
  • GABA Agents / therapeutic use*
  • Gene Deletion
  • Gene Expression Regulation / drug effects
  • Genetic Therapy
  • Hippocampus / drug effects
  • Hippocampus / metabolism
  • Humans
  • Muscular Atrophy, Spinal / genetics*
  • Muscular Atrophy, Spinal / metabolism
  • Muscular Atrophy, Spinal / therapy
  • Nerve Tissue Proteins / classification
  • Nerve Tissue Proteins / genetics*
  • Organ Culture Techniques
  • RNA Splicing
  • RNA, Messenger / analysis
  • Rats
  • Rats, Wistar
  • Reverse Transcriptase Polymerase Chain Reaction
  • Time Factors
  • Transcription, Genetic / drug effects
  • Valproic Acid / therapeutic use*

Substances

  • Antibodies, Monoclonal
  • GABA Agents
  • Nerve Tissue Proteins
  • RNA, Messenger
  • Valproic Acid