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

Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

1.5K
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...
1.5K
Overview of Protein Metabolism01:21

Overview of Protein Metabolism

3.0K
Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
3.0K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

546
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
546
Myasthenia Gravis: Overview and Treatment01:20

Myasthenia Gravis: Overview and Treatment

2.4K
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...
2.4K
Satellite Stem Cells and Muscular Dystrophy01:21

Satellite Stem Cells and Muscular Dystrophy

2.2K
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...
2.2K
Cross-bridge Cycle01:26

Cross-bridge Cycle

121.0K
As muscle contracts, the overlap between the thin and thick filaments increases, decreasing the length of the sarcomere—the contractile unit of the muscle—using energy in the form of ATP. At the molecular level, this is a cyclic, multistep process that involves binding and hydrolysis of ATP, and movement of actin by myosin.
121.0K

You might also read

Related Articles

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

Sort by
Same author

The "wrench-head" appearance of thigh muscle CT in infantile facioscapulohumeral muscular dystrophy.

Acta neurologica Belgica·2021
Same author

Care for Patients With Neuromuscular Disorders in the COVID-19 Pandemic Era.

Frontiers in neurology·2021
Same author

Circulating microRNAs as potential biomarkers and therapeutic targets in spinal muscular atrophy.

Therapeutic advances in neurological disorders·2021
Same author

Early-Onset Infantile Facioscapulohumeral Muscular Dystrophy: A Timely Review.

International journal of molecular sciences·2020
Same author

Respiratory management for patients with neuromuscular disorders during the COVID-19 pandemic.

Therapeutic advances in respiratory disease·2020
Same author

Comment on: "Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy" by Zhou et al.

Journal of cachexia, sarcopenia and muscle·2020

Related Experiment Video

Updated: Nov 25, 2025

Paradigms of Lower Extremity Electrical Stimulation Training After Spinal Cord Injury
08:07

Paradigms of Lower Extremity Electrical Stimulation Training After Spinal Cord Injury

Published on: February 1, 2018

13.0K

Metabolic and Nutritional Issues Associated with Spinal Muscular Atrophy.

Yang-Jean Li1, Tai-Heng Chen2,3, Yan-Zhang Wu2

  • 1Department of Pediatrics, Kaohsiung Municipal United Hospital, Kaohsiung 80455, Taiwan.

Nutrients
|December 19, 2020
PubMed
Summary
This summary is machine-generated.

Spinal muscular atrophy (SMA) involves motor neuron loss and muscle wasting due to low survival motor neuron (SMN) protein. Emerging research explores SMN deficiency

Keywords:
biomarkersmetabolomicsnutritionspinal muscular atrophytherapeutics

More Related Videos

Dissection of the Transversus Abdominis Muscle for Whole-mount Neuromuscular Junction Analysis
06:12

Dissection of the Transversus Abdominis Muscle for Whole-mount Neuromuscular Junction Analysis

Published on: January 11, 2014

12.1K
Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents
06:51

Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents

Published on: August 10, 2018

7.9K

Related Experiment Videos

Last Updated: Nov 25, 2025

Paradigms of Lower Extremity Electrical Stimulation Training After Spinal Cord Injury
08:07

Paradigms of Lower Extremity Electrical Stimulation Training After Spinal Cord Injury

Published on: February 1, 2018

13.0K
Dissection of the Transversus Abdominis Muscle for Whole-mount Neuromuscular Junction Analysis
06:12

Dissection of the Transversus Abdominis Muscle for Whole-mount Neuromuscular Junction Analysis

Published on: January 11, 2014

12.1K
Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents
06:51

Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents

Published on: August 10, 2018

7.9K

Area of Science:

  • Neuroscience
  • Genetics
  • Metabolic Disorders

Background:

  • Spinal muscular atrophy (SMA) is a genetic neurodegenerative disease causing motor neuron loss and muscle wasting.
  • Pathogenesis involves reduced survival motor neuron (SMN) protein levels due to SMN1 gene loss.
  • Emerging evidence suggests SMN deficiency impacts metabolic abnormalities, including fatty acid metabolism and glucose tolerance.

Purpose of the Study:

  • To review epidemiological and mechanistic findings linking metabolic changes to SMA.
  • To discuss metabolomics as a novel approach for identifying SMA biomarkers and therapeutic targets.
  • To highlight the importance of understanding metabolism and nutrition in SMA patient care.

Main Methods:

  • Review of existing literature on SMA, metabolism, and nutrition.
  • Discussion of metabolomics principles and applications in SMA research.
  • Analysis of findings linking SMN deficiency to metabolic alterations.

Main Results:

  • SMA is associated with various metabolic abnormalities, particularly in fatty acid metabolism and glucose tolerance.
  • Metabolomics studies show potential for identifying SMA biomarkers and therapeutic targets.
  • Understanding metabolic involvement is crucial for optimizing nutrition support and care for SMA patients.

Conclusions:

  • SMN deficiency has broader pathogenic effects extending to metabolic pathways.
  • Metabolomics offers a promising avenue for advancing SMA research and treatment.
  • Personalized nutritional therapy and metabolic monitoring are essential for SMA management.