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Related Experiment Video

Updated: Feb 5, 2026

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts
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Morpholino-Mediated Exon Inclusion for SMA.

Haiyan Zhou1, Francesco Muntoni2

  • 1The Dubowitz Neuromuscular Centre, Molecular Neurosciences Session, Developmental Neurosciences Programme, Great Ormond Street Institute of Child Health, University College London, London, UK.

Methods in Molecular Biology (Clifton, N.J.)
|September 2, 2018
PubMed
Summary

Antisense oligonucleotides (AONs) effectively correct gene splicing defects in genetic diseases like spinal muscular atrophy (SMA). This study details methods for evaluating AONs in SMA mouse models, assessing RNA, protein, and behavioral outcomes.

Keywords:
Alternative splicingAntisense oligonucleotideExon inclusionMotor neuronsNeuromuscular junctionPMOSMASMN2Skeletal muscle pathologyTransgenic mouse model

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Area of Science:

  • Molecular Biology
  • Genetics
  • Neuroscience

Background:

  • Antisense oligonucleotides (AONs) are a promising therapeutic strategy for genetic diseases by modulating pre-messenger RNA splicing.
  • Specific AONs targeting intronic splicing silencers have shown efficacy in increasing exon 7 inclusion in the Survival Motor Neuron 2 (SMN2) gene, leading to approved treatments for spinal muscular atrophy (SMA).
  • Phosphorodiamidate morpholino oligomer (PMO) AONs have demonstrated safety and efficacy in Duchenne muscular dystrophy (DMD) and are effective in correcting SMN2 exon 7 splicing in SMA models.

Purpose of the Study:

  • To detail the laboratory methods used for evaluating PMO-mediated SMN2 exon 7 inclusion in in vivo studies.
  • To present a comprehensive approach for assessing the therapeutic effects of PMOs in SMA transgenic mice.

Main Methods:

  • Mouse experiment procedures for in vivo studies.
  • Assessment of PMO efficacy on SMN2 exon 7 inclusion using reverse transcription (RT-PCR) and quantitative real-time PCR.
  • Protein quantification via Western blot, neuropathology assessment (muscle pathology, neuromuscular junction staining), and behavioral testing (righting reflex) in SMA mice.

Main Results:

  • The described methods allow for robust evaluation of PMO-mediated splicing correction in SMA mouse models.
  • These methods assess molecular, cellular, and functional outcomes to provide a comprehensive understanding of therapeutic efficacy.

Conclusions:

  • The presented methodologies provide a framework for evaluating the effectiveness of PMO-based therapies for SMA and potentially other genetic disorders.
  • This detailed methodological approach supports the advancement of AON-based therapeutics for neurological genetic diseases.