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Mitochondrial dysfunction and consequences in calpain-3-deficient muscle.

Vanessa E Jahnke1, Jennifer M Peterson2, Jack H Van Der Meulen1

  • 1Center for Genetic Medicine Research, Children's National Research Institute, Children's National Hospital, Washington, D.C., USA.

Skeletal Muscle
|December 14, 2020
PubMed
Summary

Calpain-3 deficiency causes mitochondrial dysfunction and impaired muscle repair in limb-girdle muscular dystrophy type 2A (LGMD2A). Treatments improving mitochondrial activity show therapeutic potential for LGMD2A patients.

Keywords:
Calpain-3 deficiencyLGMD2AMitochondriaMuscle membrane repair

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Area of Science:

  • Biochemistry
  • Molecular Biology
  • Muscle Physiology

Background:

  • Nonsense or loss-of-function mutations in calpain-3 cause limb-girdle muscular dystrophy type 2A (LGMD2A).
  • The precise physiological mechanisms underlying LGMD2A pathogenesis remain unclear despite calpain-3's known roles in muscle.
  • Calpain-3's involvement in muscle differentiation, sarcomere formation, and cytoskeletal remodeling is established.

Purpose of the Study:

  • To investigate the physiological basis of LGMD2A by examining muscle and myoblast function in calpain-3-deficient mice.
  • To assess the impact of calpain-3 deficiency on mitochondrial content, function, and gene expression.
  • To evaluate the therapeutic potential of enhancing mitochondrial activity in LGMD2A models.

Main Methods:

  • Analyzed muscle and myoblast cultures from wild-type and calpain-3-deficient mice.
  • Performed gene expression profiling and assessed mitochondrial content and function.
  • Treated calpain-3-deficient mice with a PPAR-delta agonist (GW501516) and pyruvate to evaluate mitochondrial function and membrane repair.
  • Utilized unpaired t tests and ANOVAs for statistical analysis.

Main Results:

  • Calpain-3 deficiency led to mitochondrial dysfunction, increased myoblast proliferation, and aberrant mitochondrial biogenesis.
  • Altered lipid metabolism and impaired sarcolemmal repair were observed in calpain-3-deficient muscle.
  • GW501516 treatment improved mitochondrial biogenesis, satellite cell activity, and reduced muscle fatigability and creatine kinase levels.
  • Pyruvate treatment enhanced sarcolemmal repair in calpain-3-deficient muscle.

Conclusions:

  • Calpain-3 deficiency in skeletal muscle is linked to impaired mitochondrial biogenesis and function, leading to poor sarcolemmal repair.
  • Mitochondrial dysfunction is a key contributor to LGMD2A pathology.
  • Therapies targeting mitochondrial activity present promising therapeutic strategies for LGMD2A.