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Published on: October 3, 2011
Spinal muscular atrophy: an update on therapeutic progress
Joonbae Seo1, Matthew D Howell, Natalia N Singh
1Department of Biomedical Sciences, Iowa State University, Ames, IA 50011, USA.
Biochimica Et Biophysica Acta
|September 3, 2013
Summary
Spinal muscular atrophy (SMA) is a genetic disorder caused by SMN1 gene defects. This review covers in vivo studies for SMA treatments targeting SMN2 gene splicing and SMN protein levels.
Area of Science:
- Genetics
- Molecular Biology
- Neurology
Background:
- Spinal muscular atrophy (SMA) is a severe genetic disorder and a leading cause of infant mortality, affecting approximately 1 in 6,000 live births.
- SMA arises from deletion or mutation of the survival motor neuron gene 1 (SMN1), with the survival motor neuron gene 2 (SMN2) failing to compensate.
- A key defect in SMN2 is exon 7 skipping, leading to unstable truncated SMN protein (SMNΔ7), making SMA a model for aberrant splicing disorders.
Purpose of the Study:
- To review and summarize the progress and potential of various in vivo therapeutic strategies for SMA.
- To highlight the focus on improving SMN2 gene function as a therapeutic target for SMA.
Main Methods:
- Review of published in vivo studies on SMA treatment strategies.
- Analysis of approaches targeting SMN2 gene splicing, transcription, mRNA stabilization, and SMN protein levels.
Main Results:
- Diverse therapeutic strategies are being explored, including modulating transcription, correcting splicing, and stabilizing SMN and SMNΔ7 proteins.
- In vivo studies show promise for various approaches aimed at enhancing SMN2 function to treat SMA.
Conclusions:
- SMA presents a unique genetic target due to its link to SMN2 exon 7 splicing.
- In vivo studies offer promising avenues for developing effective SMA treatments by targeting SMN2.
- Further research into these in vivo strategies is crucial for advancing SMA therapeutics.
Keywords:
ALSASOAntisense oligonucleotideBBBCREBFDAFood and Drug AdministrationGSK-3Genetic disease therapyHDACICVIGF-1IPISS-N1ISS-N2IVJAKJanus kinaseN-methyl d-aspartic acidNMDANSAIDSAHASCSMASMA therapeuticsSMNSTAT5Spinal muscular atrophySplicingSurvival motor neuronT-cell restricted intracellular antigen 1TIA1TSAVPAamyotrophic lateral sclerosisantisense oligonucleotideblood brain barriercyclic AMP response element binding proteinglycogen synthase kinase 3heterogenous ribonucleoprotein A1histone deacetylasehnRNP A1insulin-like growth factor 1intracerebroventricularintraperitonealintravascularintronic splicing silencer N1intronic splicing silencer N2non-steroidal anti-inflammatory drugscAAVself-complimentary adeno-associated virussignal transducer and activator of transcription 5small nuclear ribonucleoproteinsnRNPspinal muscular atrophysubcutaneoussuberoylanilide hydroxamic acidsurvival motor neurontrichostatin Avalproic acid
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