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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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Actin and myosin are contractile proteins that form the sarcomere found in skeletal muscle tissues for regulating muscle contraction. Actin, a globular contractile protein, interacts with myosin for muscle contraction. The skeletal tissue appears striped or striated under a microscope due to the repeated arrangement of contractile proteins actin and myosin along the length of myofibrils. Dark A bands and light I bands repeat along myofibrils, and the alignment of myofibrils in the cell causes...
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Immunolabelling Myofiber Degeneration in Muscle Biopsies
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Myofibrillar Myopathy.

Stephanie J Valberg1, Zoë J Williams2

  • 1Michigan State University, Large Animal Clinical Sciences, College of Veterinary Medicine, East Lansing, MI, USA.

The Veterinary Clinics of North America. Equine Practice
|January 29, 2025
PubMed
Summary
This summary is machine-generated.

Myofibrillar myopathy (MFM) in horses presents differently in Endurance Arabians versus Warmbloods. Both forms show reduced antioxidants, but Warmbloods exhibit maladaptive training responses.

Keywords:
DesminEquineMyofibrillarMyopathyPolysaccharide storageSkeletal muscle

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Area of Science:

  • Equine myology
  • Veterinary internal medicine
  • Molecular biology

Background:

  • Myofibrillar myopathy (MFM) is a distinct muscle disease characterized by myofibril disarray and desmin accumulation.
  • Previously misclassified as a glycogen storage disease, MFM is now recognized as a primary myopathy.
  • MFM affects horses, with distinct clinical presentations in different breeds.

Purpose of the Study:

  • To differentiate clinical and molecular characteristics of MFM in Endurance Arabians (MFM-ER) and Warmbloods (MFM-WB).
  • To investigate the role of oxidative stress and training responses in equine MFM.
  • To provide a comprehensive understanding of MFM pathophysiology in horses.

Main Methods:

  • Clinical case evaluation of Endurance Arabians and Warmbloods diagnosed with MFM.
  • Biochemical analysis of serum muscle enzymes and myoglobin.
  • Molecular profiling to identify training response signatures and antioxidant status.

Main Results:

  • Endurance Arabians with MFM (MFM-ER) typically show exertional rhabdomyolysis, elevated muscle enzymes, and myoglobinuria.
  • Warmbloods with MFM (MFM-WB) exhibit pain-related behaviors like exercise intolerance and lameness, with normal serum muscle enzymes.
  • Both MFM-ER and MFM-WB demonstrate decreased cysteine-based antioxidants; MFM-WB additionally shows molecular signs of maladaptive training.

Conclusions:

  • MFM presents with distinct clinical phenotypes in Endurance Arabians and Warmbloods.
  • Reduced cysteine-based antioxidants are a common feature of MFM in horses.
  • MFM-WB is associated with maladaptive training responses, suggesting a multifactorial etiology.