Collagen VI-related myopathies (COL6-RM) are a distinct group of hereditary muscle disorders caused by mutations in the COL6 genes and characterized by early-onset muscle weakness, for which no cure is currently available. Key pathophysiological features of COL6-deficient muscles include impaired macroautophagy/autophagy, mitochondrial dysfunction, neuromuscular junction fragmentation, and myofiber apoptosis. Modulating autophagy through dietary means has produced beneficial effects both in Col6a1-null (Col6a1−/−) mice and in patients affected by COL6-RM.
We previously demonstrated that one-month oral administration of the nutraceutical spermidine reactivates autophagy and improves myofiber defects in Col6a1−/− mice, though without achieving functional recovery. Here, we show that a 100-day spermidine regimen is capable of restoring muscle strength in Col6a1−/− mice, while also exerting beneficial effects on mitochondrial morphology and function and on neuromuscular junction integrity, without evident side effects.
Overall, these data provide a strong rationale for the application of spermidine in future clinical trials for COL6-RM.
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