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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...
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...
Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
Directly Acting Muscle Relaxants: Dantrolene and Botulinum Toxin01:26

Directly Acting Muscle Relaxants: Dantrolene and Botulinum Toxin

Directly acting muscle relaxants like dantrolene and botulinum toxin (BoNT) have distinct mechanisms and applications. Dantrolene, a hydantoin derivative, acts on the ryanodine receptor (RYR1) in skeletal muscle cells. RYR1 are calcium channels present at the sarcoplasmic reticulum membrane. In response to excitation, they release calcium ions from the sarcoplasmic reticulum to the cytosol. Calcium promotes actin-myosin-mediated contraction of muscles.
The binding of dantrolene to the RYR1...

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Updated: Jun 11, 2026

Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents
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Published on: August 10, 2018

Gene therapy for muscle disease.

Yuko Miyagoe-Suzuki1, Shin'ichi Takeda

  • 1Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-higashi, Kodaira, Tokyo, Japan.

Experimental Cell Research
|June 29, 2010
PubMed
Summary

Gene therapy offers new hope for Duchenne muscular dystrophy (DMD). Adeno-associated viral vectors and exon skipping are promising strategies to restore dystrophin protein in DMD patients, with ongoing trials showing positive results.

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CRISPR/Cas9 Technology in Restoring Dystrophin Expression in iPSC-Derived Muscle Progenitors
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Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders
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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:

  • Biomedical research
  • Genetics
  • Molecular biology

Background:

  • Duchenne muscular dystrophy (DMD) is a severe genetic disorder.
  • The dystrophin gene was discovered in 1986, but effective treatments remain elusive.
  • Understanding DMD molecular mechanisms is crucial for developing therapies.

Purpose of the Study:

  • To review recent advancements in gene therapy for Duchenne muscular dystrophy.
  • To highlight the potential of adeno-associated viral (AAV) vectors for gene transfer.
  • To focus on exon skipping technology as a promising therapeutic approach for DMD.

Main Methods:

  • Review of current literature on gene therapy for DMD.
  • Analysis of adeno-associated viral (AAV) vector-mediated gene transfer strategies.
  • Evaluation of antisense-mediated exon skipping technology for dystrophin restoration.

Main Results:

  • Adeno-associated viral (AAV) vector-mediated transfer of functional dystrophin cDNA shows promise.
  • Antisense-mediated exon skipping is an emerging strategy to restore dystrophin expression.
  • Clinical trials indicate successful dystrophin restoration in DMD patients with minimal side effects.

Conclusions:

  • Gene therapy, particularly exon skipping, represents a significant advancement in DMD treatment.
  • Ongoing research and clinical trials are paving the way for effective DMD therapies.
  • Restoring dystrophin expression is a key goal in managing Duchenne muscular dystrophy.