Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial.
Study Goal
The researchers aimed to assess whether a one-year low-protein diet could activate autophagy in skeletal muscle and improve muscle pathology in patients with COL6-related myopathies.
Results Summary
The low-protein diet increased autophagic markers in skeletal muscle and blood leukocytes, improved muscle homeostasis, and showed no adverse effects on body composition, strength, or function. Metabolic changes suggested enhanced mitochondrial function.
Population
Seven adult patients with COL6-related myopathies (Ullrich congenital muscular dystrophy and Bethlem myopathy).
Effective Dosage
Not specified
Duration
12 months
Interactions
None mentioned
| Intervention | Direction | Endpoint | Population | Dosage | Impact | Claim # |
|---|---|---|---|---|---|---|
low-protein diet | increase | autophagic markers | patients affected by COL6 myopathies | - | increased | #1 |
low-protein diet | no change | lean:fat percentage of body composition | patients affected by COL6 myopathies | - | preservation | #2 |
low-protein diet | no change | muscle strength | patients affected by COL6 myopathies | - | preservation | #3 |
low-protein diet | no change | muscle function | patients affected by COL6 myopathies | - | preservation | #4 |
low-protein diet | decrease | incidence of myofiber apoptosis | patients affected by COL6 myopathies | - | decreased | #5 |
low-protein diet | increase | mitochondrial function | patients affected by COL6 myopathies | - | improved | #6 |
A pilot clinical trial based on nutritional modulation was designed to assess the efficacy of a one-year low-protein diet in activating autophagy in skeletal muscle of patients affected by COL6/collagen VI-related myopathies. Ullrich congenital muscular dystrophy and Bethlem myopathy are rare inherited muscle disorders caused by mutations of COL6 genes and for which no cure is yet available. Studies in col6 null mice revealed that myofiber degeneration involves autophagy defects and that forced activation of autophagy results in the amelioration of muscle pathology. Seven adult patients affected by COL6 myopathies underwent a controlled low-protein diet for 12 mo and we evaluated the presence of autophagosomes and the mRNA and protein levels for BECN1/Beclin 1 and MAP1LC3B/LC3B in muscle biopsies and blood leukocytes. Safety measures were assessed, including muscle strength, motor and respiratory function, and metabolic parameters. After one y of low-protein diet, autophagic markers were increased in skeletal muscle and blood leukocytes of patients. The treatment was safe as shown by preservation of lean:fat percentage of body composition, muscle strength and function. Moreover, the decreased incidence of myofiber apoptosis indicated benefits in muscle homeostasis, and the metabolic changes pointed at improved mitochondrial function. These data provide evidence that a low-protein diet is able to activate autophagy and is safe and tolerable in patients with COL6 myopathies, pointing at autophagy activation as a potential target for therapeutic applications. In addition, our findings indicate that blood leukocytes are a promising noninvasive tool for monitoring autophagy activation in patients.