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

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...
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...
Microorganisms in Medicine and Therapeutics01:29

Microorganisms in Medicine and Therapeutics

Microorganisms play a fundamental role in vaccine development, gene therapy, and therapeutic production. Their biological properties are harnessed to advance medicine and public health. Beyond immunization, microorganisms contribute to gut health, antibiotic synthesis, and genetic disease treatment.Live Attenuated and Inactivated VaccinesLive attenuated vaccines, such as the measles, mumps, and rubella (MMR) vaccine, utilize weakened forms of pathogens to closely resemble natural infections.
Myasthenia Gravis: Overview and Treatment01:20

Myasthenia Gravis: Overview and Treatment

Myasthenia gravis is a neuromuscular transmission disorder characterized by weakness and increased fatigability of skeletal muscles. It is an autoimmune disease affecting approximately one in 2000 people, where antibodies against the α1 subunit of nicotinic acetylcholine receptors are produced.
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which leads...
Myasthenia Gravis ll: Pathophysiology01:22

Myasthenia Gravis ll: Pathophysiology

The disease process of myasthenia gravis begins at the neuromuscular junction, where antibodies attack key proteins needed for muscle activation. This immune reaction weakens signal transmission, leading to the characteristic muscle fatigue and weakness that define the condition.Immune-Mediated DamageIn most individuals, antibodies target acetylcholine receptors (AChRs) on the postsynaptic membrane of muscle cells. By blocking acetylcholine binding, these antibodies prevent the nerve signal...

You might also read

Related Articles

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

Sort by
Same author

Cardiac Safety Outcomes in Delandistrogene Moxeparvovec Clinical Trials for Duchenne Muscular Dystrophy with Up to 5 Years of Follow-up.

Cardiology and therapy·2026
Same author

Temporal Evolution of Sternal Healing on Chest CT Following Median Sternotomy: A Retrospective Analysis of Patterns of Fat Stranding, Lymphadenopathy, and Callus Formation.

Journal of computer assisted tomography·2026
Same author

Five-Year Outcomes With Delandistrogene Moxeparvovec in Patients With Duchenne Muscular Dystrophy: A Phase 1/2a Study.

Muscle & nerve·2026
Same author

Quantitative Imaging of Pyruvate Metabolism in a Patient With Anaplastic Thyroid Cancer.

Magnetic resonance in medicine·2026
Same author

ACR Appropriateness Criteria® Preprocedural Chest or Cardiac Imaging for Cardiothoracic Surgery.

Journal of the American College of Radiology : JACR·2026
Same author

Physiological Interpretation of the Lactate to Pyruvate AUC Ratio for Hyperpolarized [1-<sup>13</sup>C]-Pyruvate Studies.

Magnetic resonance in medicine·2026

Related Experiment Video

Updated: May 22, 2026

CRISPR/Cas9 Technology in Restoring Dystrophin Expression in iPSC-Derived Muscle Progenitors
07:44

CRISPR/Cas9 Technology in Restoring Dystrophin Expression in iPSC-Derived Muscle Progenitors

Published on: September 14, 2019

Gene therapy for muscular dystrophy: lessons learned and path forward.

Jerry R Mendell1, Louise Rodino-Klapac, Zarife Sahenk

  • 1Center for Gene Therapy, Research Institute at Nationwide Children's Hospital, Department of Pediatrics, The Ohio State University, Columbus, OH 43205, USA.

Neuroscience Letters
|May 22, 2012
PubMed
Summary

Molecular-based therapies, including exon skipping and gene transfer, show promise for treating muscular dystrophies like Duchenne Muscular Dystrophy. Clinical trials with small molecules and gene therapy approaches have demonstrated early efficacy and safety, guiding future research.

More Related Videos

Purification and Transplantation of Myogenic Progenitor Cell Derived Exosomes to Improve Cardiac Function in Duchenne Muscular Dystrophic Mice
08:13

Purification and Transplantation of Myogenic Progenitor Cell Derived Exosomes to Improve Cardiac Function in Duchenne Muscular Dystrophic Mice

Published on: April 10, 2019

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

Related Experiment Videos

Last Updated: May 22, 2026

CRISPR/Cas9 Technology in Restoring Dystrophin Expression in iPSC-Derived Muscle Progenitors
07:44

CRISPR/Cas9 Technology in Restoring Dystrophin Expression in iPSC-Derived Muscle Progenitors

Published on: September 14, 2019

Purification and Transplantation of Myogenic Progenitor Cell Derived Exosomes to Improve Cardiac Function in Duchenne Muscular Dystrophic Mice
08:13

Purification and Transplantation of Myogenic Progenitor Cell Derived Exosomes to Improve Cardiac Function in Duchenne Muscular Dystrophic Mice

Published on: April 10, 2019

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

Area of Science:

  • Molecular medicine and gene therapy for neuromuscular disorders.

Background:

  • Muscular dystrophies are a group of genetic disorders characterized by progressive muscle weakness and degeneration.
  • Current research focuses on molecular-based strategies to address the underlying genetic defects.
  • Small molecules and gene therapy offer potential therapeutic avenues for muscular dystrophies.

Purpose of the Study:

  • To evaluate the efficacy and safety of molecular-based approaches for treating muscular dystrophies.
  • To explore exon skipping, mutation suppression, and gene transfer as therapeutic tools.
  • To guide future research by analyzing outcomes from ongoing clinical trials.

Main Methods:

  • Exon skipping using 2'O-methyl-ribo-oligonucleoside-phosphorothioate (2'OMe) and phosphorodiamidate morpholino (PMO) oligomers in Duchenne Muscular Dystrophy (DMD).
  • Mutation suppression via stop codon readthrough using gentamicin and Ataluren (PTC124).
  • Gene therapy trials involving adeno-associated virus (AAV) vectors for transferring mini-dystrophin, alpha-sarcoglycan, and follistatin genes.

Main Results:

  • Early evidence of efficacy demonstrated for both 2'OMe and PMO in exon skipping trials for DMD.
  • Proof of principle established for mutation suppression using gentamicin and promising results with Ataluren.
  • Gene therapy trials showed successful gene expression (e.g., persistent expression for six months with alpha-sarcoglycan) and no adverse events encountered across all trials.

Conclusions:

  • Molecular-based approaches, including exon skipping and gene therapy, are effective tools for treating muscular dystrophies.
  • Clinical trials have provided early evidence of efficacy and demonstrated a favorable safety profile.
  • Unexpected immune responses in gene therapy trials provide crucial insights for optimizing future treatments.