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Abstract
ObjectivesAlthough 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.MethodsTen 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.ResultsSeven 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).ConclusionIn 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.
Highlights
Familial Mediterranean fever (FMF) is the most common Mendelian autoinflammatory syndrome
Seven miRNAs showed significant differences in expression in samples from FMF patients compared to healthy controls: four miRNAs were upregulated, and three were downregulated
We identified epigenetic modifications in clinically quiescent FMF patients
Summary
Familial Mediterranean fever (FMF) is the most common Mendelian autoinflammatory syndrome. It occurs most frequently in Sephardic Jewish, Arab, Armenian, Italian, and Turkish populations, with reported carrier frequencies as high as 1:3 to 1:7 [1,2,3]. About 30% of patients who are heterozygous for one MEFV mutation show a mild inflammatory response that may be manifested by overt disease, including elevated levels of C-reactive protein and serum amyloid A [6]. There are reports of families with seemingly dominant inheritance with various penetrance [7,8] These inconsistencies suggest that epigenetic mechanisms might contribute to the expression of MEFV mutations and to the development of overt disease
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