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Published on: November 30, 2016
The Assessment of Selected miRNA Profile in Familial Mediterranean Fever
Cigdem Yuce Kahraman1, Mehmet Ertugrul Egin2, Abdulgani Tatar1
1Department of Medical Genetics, Faculty of Medicine, Atatürk University, Erzurum, Turkey.
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.
Insights
Familial Mediterranean fever (FMF) involves altered microRNA (miRNA) expression. This study identified specific upregulated and downregulated miRNAs in FMF patients, suggesting their role in disease pathogenesis and potential as diagnostic markers.
Area of Science:
- Immunology
- Genetics
- Molecular Biology
Background:
- Familial Mediterranean fever (FMF) is a prevalent autoinflammatory disease.
- FMF is caused by mutations in the MEFV gene, affecting pyrin protein function in innate immunity and inflammasome regulation.
- MicroRNAs (miRNAs) are implicated in various diseases, but their role in FMF remains largely unexplored.
Purpose of the Study:
- To investigate the expression profiles of selected immune-related miRNAs in FMF patients.
- To identify potential miRNA biomarkers associated with FMF pathogenesis and clinical manifestations.
Main Methods:
- Genetically diagnosed FMF patients (n=28) and healthy controls (n=28) were recruited.
- Quantitative reverse transcription PCR (qRT-PCR) was used to determine miRNA expression levels, normalized to SNORD61.
- Expression profiling of thirteen selected miRNAs was performed.
Main Results:
- Significant differential expression of several miRNAs was observed in FMF patients compared to controls.
- Upregulated miRNAs included miR-34a-5p, miR-142-3p, miR-216a-5p, miR-340-5p, miR-429, and miR-582-5p.
- Downregulated miRNAs included miR-107, miR-569, and miR-1304-5p, with miR-107 showing particular significance in M694V homozygous mutants.
Conclusions:
- MicroRNAs play a potential role in the pathogenesis of FMF.
- Specific miRNAs, notably miR-107, may serve as valuable diagnostic or monitoring tools, especially in patients with the M694V mutation associated with amyloidosis.
- Targeting these miRNAs presents a promising avenue for developing novel FMF therapeutics and diagnostic strategies.
