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Humans with function-disrupting variants in the myostatin gene (MSTN) have increased skeletal muscle mass and strength, and less adiposity - PubMed

3 hours ago
  • #genetics
  • #muscle growth
  • #myostatin
  • Humans with function-disrupting variants in the myostatin gene (MSTN) have increased skeletal muscle mass and strength, and less adiposity.
  • Myostatin negatively regulates skeletal muscle size in multiple species, and myostatin blockade has been explored therapeutically to promote muscle growth in humans.
  • A large multi-cohort genetic association analysis involving 1.1 million individuals examined the effects of MSTN mutations on body composition and cardiometabolic health.
  • Carriers of function-disrupting MSTN variants showed decreased adiposity, increased lean mass, grip strength, and creatinine levels.
  • Whole-body MRI data from UK Biobank, analyzed using deep learning, revealed that mutation carriers had increased muscle mass across multiple muscle groups, with some showing over 10% increase.
  • Lifelong reduction in myostatin function enhances muscle size and strength while decreasing body adiposity, offering insights into the potential benefits and safety of long-term myostatin blockade.