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Analysis of microRNAs in familial Mediterranean fever

Gil Amarilyo1,2, Nir Pillar2, Ilan Ben-Zvi2,3

  • 1Department of Pediatric Rheumatology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.

Plos One
|May 23, 2018
PubMed
Abstract

Insights

This study identified seven microRNAs with altered expression in patients with Familial Mediterranean fever (FMF), suggesting potential epigenetic modifications in the disease. These findings may offer new insights into FMF pathogenesis and biomarker development.

Area of Science:

  • Genetics and Epigenetics
  • Molecular Biology
  • Immunology

Background:

  • Familial Mediterranean fever (FMF) is typically autosomal recessive, but exceptions suggest other regulatory mechanisms.
  • Epigenetic modifications, such as microRNA (miRNA) expression changes, may play a role in FMF pathogenesis.

Purpose of the Study:

  • To investigate potential epigenetic modifications by profiling microRNA expression in clinically quiescent FMF patients.
  • To identify specific miRNAs that are differentially expressed in FMF compared to healthy controls.

Main Methods:

  • Ten M694V homozygous FMF patients (without active inflammation) and 10 healthy controls were recruited.
  • Total RNA was extracted from peripheral blood, and microRNA expression was profiled using NanoString nCounter technology.

Main Results:

  • Out of 798 mature human miRNAs, 103 showed detectable expression.
  • Seven miRNAs exhibited significant expression differences: four were upregulated (miR-144-3p, miR-21-5p, miR-4454, miR-451a) and three were downregulated (miR-107, let-7d-5p, miR-148b-3p) in FMF patients.

Conclusions:

  • This pilot study identified distinct microRNA expression profiles in quiescent FMF patients, indicating epigenetic alterations.
  • Further research is needed to elucidate the role of these miRNAs in FMF pathogenesis and their potential as clinical biomarkers.

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