The Assessment of Selected miRNA Profile in Familial Mediterranean Fever

Abstract

Familial Mediterranean fever (FMF) is the most prevalent autoinflammatory disease. Typical findings are recurrent fever attacks with serositis, skin rash, and synovitis. FMF is caused by mutations in the MEFV gene, encoding pyrin protein. Pyrin functions in innate immunity and triggers inflammation via inflammatory mediators’ production and acts as the primary regulatory component of the inflammasome. On the other hand, various miRNAs play crucial roles in the pathogenesis of different types of cancers and immune-related and neurodegenerative diseases. However, their association with FMF is still unclear. Therefore, in this study, we assessed the roles of selected thirteen miRNAs associated with immune functions. We recruited genetically diagnosed 28 FMF patients and 28 healthy individuals. The expression profiling of the miRNAs was determined by qRT-PCR and normalized to SNORD61. Our analysis revealed that miR-34a-5p, miR-142-3p, miR-216a-5p, miR-340-5p, miR-429, and miR-582-5p were upregulated, whereas miR-107, miR-569, and miR-1304-5p were downregulated in the FMF patients. Among them, miR-107 was found to be the most remarkable in M694V homozygous mutants compared to other homozygous mutants. During clinical follow-up of the patients with M694V mutation, which is closely related to amyloidosis, evaluation of mir-107 expression might be crucial and suggestive. Our results showed that miRNAs might serve a function in the pathogenesis of FMF. Further studies may provide novel and effective diagnostic and therapeutic agents that target examined miRNAs. Targeting miRNAs in FMF seems to be promising and may yield a new generation of rational therapeutics and diagnostic or monitoring tools enabling FMF treatment.

Identification of immune-related and autophagy-related genes for the prediction of survival in bladder cancer

“…Studies related to chronic non-bacterial osteomyelitis indicated that the frequency of MEFV gene mutations increased in the disease, and the disease phenotype was more severe in patients with MEFV gene mutations [ 35 ]. In addition, studies have shown that mutations of MEFV gene which encode the pyrin protein could cause Familial Mediterranean fever [ 36 ]. Our study revealed that overexpression of MEFV was a favorable prognostic factor in BLCA patients.…”

Updates on the role of epigenetics in familial mediterranean fever (FMF)

“…Another study conducted by Kahraman et al in 2021 aimed to evaluate the role of a subset of 13 miRNAs in relation to immune functions in 28 diagnosed FMF patients and 28 controls from Turkey [ 97 ]. The results revealed the overexpression of miR-34a-5p, miR-142-3p, miR-216a-5p, miR-340-5p, miR-429, and miR-582-5p and the downregulation of miR-107, miR-569, and miR-1304-5p in FMF patients compared to those in controls.…”

“…Furthermore, significantly lower expression levels of miR-107 were detected in patients homozygous for the M694V mutation than in patients carrying other mutations. Accordingly, the authors suggested a possible association between miR-107 and the M694V genotype and the potential use of this particular miRNA as a therapeutic and diagnostic tool for FMF [ 97 ].…”

Familial Mediterranean fever and microRNAs

“…As a result of the study, it was found that miR‐34a‐5p, ‐142‐3p, ‐216a‐5p, ‐340‐5p, ‐429 and ‐582‐5p were upregulated and miR‐107, ‐569 and ‐1304‐5p were downregulated. Moreover, it has been found that miR‐107 had the most striking expression change in patients with homozygous M694V mutation compared to other homozygous mutants in a sub‐analysis of the patient group in terms of the mutations (Kahraman et al., 2021).…”