1. Unravelling inclusion body myositis using a patient‐derived fibroblast model
- Author
-
Judith Cantó‐Santos, Laura Valls‐Roca, Ester Tobías, Francesc Josep García‐García, Mariona Guitart‐Mampel, Anna Esteve‐Codina, Beatriz Martín‐Mur, Mercedes Casado, Rafael Artuch, Estel Solsona‐Vilarrasa, José Carlos Fernandez‐Checa, Carmen García‐Ruiz, Carles Rentero, Carlos Enrich, Pedro J. Moreno‐Lozano, José César Milisenda, Francesc Cardellach, Josep M. Grau‐Junyent, and Glòria Garrabou
- Subjects
Inclusion body myositis ,Myopathy ,Fibroblasts ,Autophagy ,Inflammation ,Mitochondria ,Diseases of the musculoskeletal system ,RC925-935 ,Human anatomy ,QM1-695 - Abstract
Abstract Background Inclusion body myositis (IBM) is an inflammatory myopathy clinically characterized by proximal and distal muscle weakness, with inflammatory infiltrates, rimmed vacuoles and mitochondrial changes in muscle histopathology. There is scarce knowledge on IBM aetiology, and non‐established biomarkers or effective treatments are available, partly due to the lack of validated disease models. Methods We have performed transcriptomics and functional validation of IBM muscle pathological hallmarks in fibroblasts from IBM patients (n = 14) and healthy controls (n = 12), paired by age and sex. The results comprise an mRNA‐seq, together with functional inflammatory, autophagy, mitochondrial and metabolic changes between patients and controls. Results Gene expression profile of IBM vs control fibroblasts revealed 778 differentially expressed genes (P‐value adj
- Published
- 2023
- Full Text
- View/download PDF