Unravelling inclusion body myositis using a patient-derived fibroblast model.

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 pro

SUBMITTER: Canto-Santos J 

PROVIDER: S-EPMC10067507 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature