Identification of a distinctive gene signature associated with disease activity 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

We conducted a systematic analysis of the inflammatory pathways implicated in GM. This analysis revealed that GM muscle biopsies are characterized by elevated levels of IFNγ, IFNγ-indu

SUBMITTER: Pinal-Fernandez I 

PROVIDER: S-EPMC12736163 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature