Identification of a distinctive gene signature in granulomatous myositis.

ABSTRACT:

Objectives

Granulomatous myositis (GM) is defined by focal collections of activated macrophages that fuse to form multinucleated cells that aggregate into granulomas within skeletal muscle. This study aimed to elucidate the pathophysiology of GM by defining its specific transcriptomic profile.

Methods

Bulk RNA sequencing was performed on 722 muscle biopsies, including 38 from patients with GM, other myopathies, and healthy comparators. Spatial transcriptomics and immunohistochemistry assays were used to identify the location of specific transcripts and proteins within the tissue.

Results

The transcriptomic signature of GM muscle biopsies was characterized by high levels of IFNγ, IFNγ-inducible genes, and proinflammatory cytokine genes including IL1B, TNF, and TGFB1. T

SUBMITTER: Pinal-Fernandez I 

PROVIDER: S-EPMC12191085 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature