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Related Concept Videos

Disorders of the Skeletal Muscle01:28

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The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
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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.
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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...
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Chemical synapses are specialized sites between two neurons or between a neuron and a non-neuronal cell like a muscle, glandular or sensory cell.
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Spinal Muscular Atrophy.

Stephen J Kolb1, John T Kissel2

  • 1Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA; Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH 43210-1228, USA.

Neurologic Clinics
|October 31, 2015
PubMed
Summary
This summary is machine-generated.

Spinal muscular atrophy (SMA) is a genetic disorder affecting motor neurons. Increased SMN2 gene copies correlate with milder SMA, fueling promising future therapies.

Keywords:
Motor neuronSMN1SMN2Spinal muscular atrophySurvival motor neuron gene

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Area of Science:

  • Neurology
  • Genetics
  • Molecular Biology

Background:

  • Spinal muscular atrophy (SMA) is an autosomal-recessive motor neuron disease.
  • Caused by mutations in the survival motor neuron 1 (SMN1) gene.
  • SMA exhibits variable clinical severity.

Purpose of the Study:

  • To summarize the understanding of Spinal Muscular Atrophy (SMA).
  • To highlight the role of the SMN2 gene in SMA.
  • To discuss current clinical management and future therapeutic prospects.

Main Methods:

  • Review of existing literature on SMA.
  • Analysis of the relationship between SMN1/SMN2 genes and disease severity.
  • Overview of current clinical management strategies.
  • Examination of preclinical models and ongoing clinical trials.

Main Results:

  • SMA is linked to SMN1 gene mutations.
  • The SMN2 gene produces limited SMN mRNA.
  • A higher SMN2 gene copy number is inversely correlated with SMA clinical severity.
  • Multidisciplinary care is the current standard for SMA management.

Conclusions:

  • SMA pathogenesis is tied to SMN1 gene defects.
  • SMN2 gene copy number is a key determinant of SMA severity.
  • Preclinical research has advanced SMA therapeutic development.
  • Numerous clinical trials offer hope for effective future SMA treatments.