Profibrotic Molecules Are Reduced in CRISPR-Edited Emery-Dreifuss Muscular Dystrophy Fibroblasts

    August 2025 in “ Cells ”
    Eleonora Cattin, Elisa Schena, Elisabetta Mattioli, Stefania Marcuzzo, Silvia Bonanno, Paola Cavalcante, Federico Corradi, Daniela Benati, Giorgia Farinazzo, Marco Cattaneo, Veronica De Sanctis, Roberto Bertorelli, Lorenzo Maggi, Melania Giannotta, Antonella Pini, Gaetano Vattemi, Denise Cassandrini, Marco Cavallo, Cristina Manferdini, Gina Lisignoli, Beatrice Fontana, Ilaria Pace, Claudio Bruno, Roberta Roncarati, Chiara Fiorillo, Manuela Ferracin, Eric C. Schirmer, Alessandra Recchia, Giovanna Lattanzi
    Studysummary This study found that fibroblasts from Emery-Dreifuss muscular dystrophy patients with certain genetic mutations overexpress markers of fibrosis, and gene correction techniques reduced fibrogenic molecule expression in cell models, suggesting potential therapeutic applications. Our plain-language summary of this paper — not a Tressless recommendation.
    The study explores the effects of CRISPR/Cas gene editing on fibroblasts and myoblasts from patients with Emery–Dreifuss Muscular Dystrophy (EDMD), focusing on reducing profibrotic molecules like TGFbeta 2 and miR-21. Researchers found that fibroblasts with mutations in EMD and LMNA genes showed increased fibrogenic markers, which were significantly reduced after CRISPR correction. This gene editing restored normal miRNA profiles and emerin expression, suggesting a potential therapeutic approach for managing fibrosis in EDMD. The study involved multiple experiments with triplicate samples, confirming the efficiency and specificity of the gene editing, and highlights the promise of CRISPR technology in treating laminopathies like EDMD.
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