Analysis of microRNAs in familial Mediterranean fever

PLoS One. 2018 May 22;13(5):e0197829. doi: 10.1371/journal.pone.0197829. eCollection 2018.


Objectives: Although Familial Mediterranean fever (FMF) is categorized as autosomal recessive, frequent exceptions to this model exist and therefore we aimed to search epigenetic modifications in this disease.

Methods: Ten M694V homozygous FMF patients (the most severe phenotype) were recruited for this study. Patients with inflammatory flare were excluded. Total RNA was extracted from peripheral blood, and microRNA expression profiled using NanoString nCounter technology. These patients were compared to 10 healthy age- and sex-matched controls.

Results: Seven hundred nighty-eight mature human miRNAs were probed, 103 of which had expression levels above the negative control probes. Seven miRNAs showed significant differences in expression in samples from FMF patients compared to healthy controls: four miRNAs were upregulated (miR-144-3p, miR-21-5p, miR-4454, and miR-451a), and three were downregulated (miR-107, let-7d-5p, and miR-148b-3p).

Conclusion: In this pilot study, we identified epigenetic modifications in clinically quiescent FMF patients. More studies are required for exploration of their contribution to FMF pathogenesis and their potential role as clinical biomarkers.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Case-Control Studies
  • Familial Mediterranean Fever / genetics*
  • Female
  • Gene Expression Profiling
  • Humans
  • Male
  • MicroRNAs / genetics*
  • Middle Aged
  • Phenotype


  • MicroRNAs

Grant support

This study was supported by research grants from the Wladimir Schreiber Foundation for Medical Research at Sackler Faculty of Medicine, Tel Aviv University, and Novartis Inc. The funders do not have any role in the study design; collection, analysis, and interpretation of data; writing of the paper; and/or decision to submit for publication. There is no potential financial and non-financial conflict of interest related to this manuscript between the funders and the authors.