Abstract
Objectives: Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by mutations in MEFV. Mutations in exon 10 are associated with typical FMF phenotypes, whereas the pathogenic role of variants in exons 2 and 3 remains uncertain. Recent evidence suggests that circulating microRNAs (miRNAs) are potentially useful biomarkers in several diseases. Therefore, their expression was assessed in FMF.Methods: The subjects were 24 patients with FMF who were between attacks: eight with exon 10 mutations (group A), eight with exon 3 mutations (group B), and eight without exon 3 or 10 mutations (group C). We also investigated eight cases of PFAPA as disease controls. Exosome-rich fractionated RNA was subjected to miRNA profiling by microarray.Results: Using the expression patterns of 26 miRNAs, we classified FMF (groups A, B, and C) and PFAPA with 78.1% accuracy. In FMF patients, groups A and B, A and C, and B and C were distinguished with 93.8, 87.5, and 100% accuracy using 24, 30, and 25 miRNA expression patterns, respectively.Conclusions: These findings suggest that expression patterns of circulating miRNAs differ among FMF subgroups based on MEFV mutations between FMF episodes. These patterns may serve as a useful biomarker for detecting subgroups of FMF.
Highlights
Familial Mediterranean fever (FMF) is an inherited autoinflammatory disease that is characterized by recurrent episodes of fever with serositis, synovitis, or skin rash [1]
FMF is caused by autosomal recessive mutations in the MEFV gene, which has 10 exons encoding a 781-amino acid protein called pyrin [1]
Clinical diagnosis of FMF is based on the presence of short (12 hours to 3 days), recurrent episodes of fever with painful manifestations in the abdomen, chest, joints, or skin, with no discernible infectious cause [3]
Summary
Familial Mediterranean fever (FMF) is an inherited autoinflammatory disease that is characterized by recurrent episodes of fever with serositis, synovitis, or skin rash [1]. Pyrin is expressed in innate cells, including granulocytes, cytokine-activated monocytes, dendritic cells, and synovial and peritoneal fibroblasts. This protein appears to act as a pivotal regulator of inflammation and apoptosis, and mutated pyrin leads to aberrant production of interleukin-1β in FMF [2]. Clinical diagnosis of FMF is based on the presence of short (12 hours to 3 days), recurrent episodes of fever with painful manifestations in the abdomen, chest, joints, or skin, with no discernible infectious cause [3]. The Tel Hashomer criteria are the most widely used to establish a diagnosis; milder cases without exon 10 mutations sometimes pose diagnostic problems in Western nations and in Japan [4]
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