Collagen VI (ColVI)-related myopathies are a distinct group of progressive muscle disorders, including Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM), for which no effective therapy is currently available. Over the past two decades, extensive efforts have been devoted to elucidating the pathogenic mechanisms underlying ColVI-related myopathies, also through the use of the ColVI-null mouse model (Col6a1 −/−), with the aim of identifying potential pharmacological targets for future therapeutic strategies.
The results obtained in this study provide a proof of concept for the repurposing of salbutamol, an FDA-approved drug, in the context of ColVI-related myopathies. Indeed, our findings demonstrate that systemic administration of salbutamol can rescue the major structural and functional defects of the neuromuscular junction (NMJ) observed in ColVI-deficient mouse muscles, which have also been previously described in patients.
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