Autoinflammatory & rare systemic diseases
Exploring the faecal miRNA profile in familial Mediterranean fever patients and the role of miR-21-5p in inflammatory pathways associated with familial Mediterranean fever (FMF) pathogenesis
Authors' conclusion
Our findings highlight the role of miRNAs in intestinal inflammation and their potential as diagnostic and prognostic biomarkers in FMF. Our functional data underscore the regulatory role of miR-21-5p in FMF-related inflammatory pathways and warrant further studies to elucidate its therapeutic potential, particularly in patients refractory to colchicine or as an adjunct to existing treatments.
Study context
- Population
- FMF patients, patients with Clostridioides difficile infection (CDI), and healthy controlsThirty-four FMF patients, 15 CDI patients and 25 healthy controls
- Comparison
- Faecal levels of 27 miRNAs in FMF patients compared with controls
- FMFn = Thirty-four
- CDIn = 15
- Healthy controlsn = 25
- Outcome
- Faecal miRNA expression, FMF vs controls
Methodological detailsfaecal miRNA quantification by qRT-PCR, LPS-stimulated THP-1 derived macrophages transfected with an anti-mir-21-5p inhibitor, western blot
- Faecal miRNA quantification by qRT-PCR
- LPS-stimulated THP-1 derived macrophages transfected with an anti-mir-21-5p inhibitor
- Western blot
Main finding
As reported in the abstract
- Among the 27 analysed miRNAs, eight were significantly upregulated in FMF patients compared with controls
- eight
Observational data: associations, not effects.
Further findings
miRNAs by genotype and disease severity
- Downregulation of miR-186-5p and miR-374b-5p particularly in M694V homozygous patients
- let-7d-5p and miR-148b-3p associated with higher disease severity
Functional inhibition of miR-21-5p in LPS-stimulated THP-1-derived macrophages
- Reduced NF-ĸB activation
- Decreased expression of inflammasome-associated proteins except ASC
- Consistent with ASC-independent modulation of inflammasome signalling, potentially through direct caspase-1 activation
Original publication
Exploring the faecal miRNA profile in familial Mediterranean fever patients and the role of miR-21-5p in inflammatory pathways associated with FMF pathogenesis. Clin Exp Rheumatol. Published 26 October 2026. doi:10.
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