Abstract

Emery-Dreifuss Muscular Dystrophy type 2 (EDMD2) and LMNA-related congenital muscular dystrophy (L-CMD) are caused by mutations in LMNA gene. Both pathologies are characterized by joint contractures, muscle weakness and wasting and cardiac involvement. In the last few years, circulating factors have been proposed to play a critical role in the pathogenesis of these diseases. Based on this consideration, we studied the effect of laminopathic serum on the myogenic differentiation in healthy human myoblasts in culture. We observed impaired myogenesis and increased fibrosis in myoblast cultures conditioned with laminopathic serum and a dramatic increase in the level of profibrotic and proinflammatory cytokines in the cell culture supernatants. These results strongly support the pathogenic role of circulating factors in muscular laminopathies and pave the way to a possible therapeutic strategy.

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Authors

Elisa Schena - CNR Institute of Molecular Genetics “Luigi Luca Cavalli-Sforza”, Unit of Bologna, Bologna, Italy; RCCS Istituto Ortopedico Rizzoli, Bologna, Italy

Antonella Pini - RCCS Institute of Neurological Sciences of Bologna, Bologna, Italy

Paola Cavalcante - Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta” Milan, Italy

Gabriele Siciliano - Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

Giulia Ricci - Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

How to Cite
Schena, E., Pini, A., Cavalcante, P., Siciliano, G. ., & Ricci, G. (2025). Anti-myogenic and profibrotic effect of serum from patients affected by muscular laminopathies . Acta Myologica, 44(2). https://doi.org/10.36185/2532-1900-1126
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