Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Satellite Stem Cells and Muscular Dystrophy01:21

Satellite Stem Cells and Muscular Dystrophy

Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...
Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
RNA Splicing01:32

RNA Splicing

Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
RNA Splicing01:32

RNA Splicing

Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
Gene Therapy00:59

Gene Therapy

Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...
Gene Therapy00:59

Gene Therapy

Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Systemic Inflammation Modulates Clearance and Drives Extra-Hepatic Distribution of Extracellular Vesicles.

Journal of extracellular vesicles·2026
Same author

Myonuclear Domain-Associated and Central Nucleation-Dependent Spatial Restriction of Dystrophin Protein Expression.

Journal of cachexia, sarcopenia and muscle·2026
Same author

Design, validation, and functional impact of oligonucleotides for multigene silencing in Alzheimer's disease.

Molecular therapy. Nucleic acids·2026
Same author

Biophysical and biological properties of splice-switching oligonucleotides and click conjugates containing LNA-phosphothiotriester linkages.

Nucleic acids research·2025
Same author

Synthesis, Biological Activity, and Molecular Dynamics Simulations of LNA-Charge Neutral Linkages for Enhanced Splice-Switching Antisense Oligonucleotides.

Angewandte Chemie (International ed. in English)·2025
Same author

AAV microdystrophin gene replacement therapy for Duchenne muscular dystrophy: progress and prospects.

Gene therapy·2025

Related Experiment Video

Updated: May 11, 2026

Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders
10:28

Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders

Published on: April 3, 2021

Splicing therapy for neuromuscular disease.

Andrew G L Douglas1, Matthew J A Wood

  • 1Department of Physiology, Anatomy and Genetics, University of Oxford, UK.

Molecular and Cellular Neurosciences
|May 2, 2013
PubMed
Summary

Antisense oligonucleotides offer a promising genetic therapy approach for Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA). This method modifies pre-mRNA splicing to restore protein function, with ongoing clinical trials showing potential for these fatal neuromuscular diseases.

Keywords:
2′-O-methoxyethyl phosphorothioate2′-O-methyl phosphorothioate2′MOE-PS2′OMePSAONAntisenseCPPDMDDuchenne muscular dystrophyExon inclusionExon skippingPMOPPMOSMASplicingantisense oligonucleotidecell-penetrating peptidepeptide-conjugated phosphorodiamidate morpholinophosphorodiamidate morpholinospinal muscular atrophy

More Related Videos

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts
07:02

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

Published on: May 11, 2018

Related Experiment Videos

Last Updated: May 11, 2026

Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders
10:28

Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders

Published on: April 3, 2021

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts
07:02

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

Published on: May 11, 2018

Area of Science:

  • Neurology
  • Genetics
  • Molecular Biology

Background:

  • Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) are common, fatal inherited neuromuscular diseases.
  • Current treatments do not significantly alter the disease course for DMD or SMA.
  • Restoring protein function is a key therapeutic goal for these conditions.

Purpose of the Study:

  • To explore the potential of antisense oligonucleotides (ASOs) in treating DMD and SMA.
  • To review the efficacy of ASO-mediated pre-mRNA splicing manipulation.
  • To discuss the clinical development and implementation of personalized genetic therapies.

Main Methods:

  • Utilizing antisense oligonucleotides to modify pre-mRNA splicing of the DMD and SMN2 genes.
  • Conducting in vitro and in vivo studies to validate the approach.
  • Analyzing preliminary clinical trial data for ASO therapies.

Main Results:

  • ASO treatment can correct defective transcripts, leading to protein restoration and functional recovery.
  • Extensive preclinical studies support the therapeutic applicability of this approach.
  • Early clinical trials indicate promising outcomes for ASO-based treatments.

Conclusions:

  • Antisense oligonucleotide therapy represents a viable strategy for treating DMD and SMA.
  • Further research and clinical development are crucial for personalized genetic therapies.
  • Efficient delivery and prolonged therapeutic effects are key areas for ongoing investigation.