Collagen VI is a fibrosis-associated signal disrupting muscle regeneration across human myopathies

ABSTRACT: Muscle fibrosis is a major driver of progression in diverse myopathies, yet the conserved molecular mediators of this process in humans remains poorly defined. Here, we identify collagen VI as a common regeneration-impairing extracellular matrix (ECM) component across three distinct human myopathies: Duchenne Muscular Dystrophy (DMD), Oculopharyngeal Muscular Dystrophy (OPMD), and Inclusion Body Myositis (IBM). Proteomic profiling of fibrotic biopsies reveals consistent upregulation of collagen VI and laminin γ1, alongside disease-specific alterations. Fibro-adipogenic progenitors (FAPs) are the predominant source of these ECM components, including collagen VI and laminin γ1. Functionally, xenotransplantation of patient-derived FAPs into regenerating mouse muscle induce localized collagen

SUBMITTER: Laura Muraine 

PROVIDER: S-SCDT-10_1038-S44319-026-00834-0 | biostudies-other |

REPOSITORIES: biostudies-other