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Published on: November 30, 2016
Altered expression of miR-17 and miR-148b in pediatric familial mediterranean fever patients
Mona F Sokkar1, Ghada Nour Eldeen1, Randa S Lotfy2
1Molecular Genetics and Enzymology Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), 33 El-Buhouth St, Cairo, Egypt.
Abstract:
Familial Mediterranean fever (FMF) is a recessively inherited autoinflammatory disorder with wide phenotypic variation that has been observed among individuals who have the same genotype. Modifying genes, epigenetic factors, or environmental factors might all have an impact on genotype-phenotype correlation in FMF. The current research aims to determine the expression levels of microRNAs (miR-148b and miR-17) in Egyptian FMF participants. We also aimed to investigate Caspase -1 gene expression to make a correlation with disease severity. The study comprised 25 clinically diagnosed FMF cases and 25 healthy subjects matched for age and sex. The molecular diagnosis of FMF cases was assessed using real-time SNP genotyping assay. MiR-148b and miR-17 expression were profiled using TaqMan assay technology. The expression level of Caspase -1 gene was also verified using qRT-PCR. MiR-17 in the studied cases was significantly upregulated compared to healthy individuals (P = 0.006), whereas miR-148b was significantly downregulated in the examined patients (P = 0.030). Moreover, statistically significant upregulation of Caspase-1 expression was also elucidated in relation to normal subjects (P = 0.033). The results obtained indicated that miR-17 and miR-148b might be potential regulatory biomarkers in FMF cases. We further hypothesized that the upregulation of Caspase-1 could hint at its significance as a future therapeutic target to alleviate the inflammatory process in these patients. Key Points • The role of miRNAs in FMF and various mechanisms involved in FMF pathogenesis has received increasing attention. • Studying the expression profiles of miR-17 and miR-148b in FMF patients revealed their potential role as regulatory biomarkers in these patients. • Significant upregulation of Caspase-1 expression in FMF cases could hint at its significance as a future therapeutic target. • Future studies on larger cohorts are warranted to clarify and better understand the role of miRNAs in the pathogenesis and severity of FMF.
Insights
MicroRNA-17 (miR-17) is upregulated and microRNA-148b (miR-148b) is downregulated in Familial Mediterranean Fever (FMF) patients. Caspase-1 gene expression is also elevated, suggesting potential therapeutic targets for FMF.
Area of Science:
- Genetics
- Molecular Biology
- Immunology
Background:
- Familial Mediterranean Fever (FMF) is an autoinflammatory disorder with variable clinical presentations despite identical genotypes.
- Factors like modifying genes, epigenetics, and environment may influence FMF genotype-phenotype correlations.
Purpose of the Study:
- To quantify microRNA-148b (miR-148b) and microRNA-17 (miR-17) expression levels in Egyptian FMF patients.
- To investigate the expression of Caspase-1 gene and its correlation with FMF disease severity.
Main Methods:
- Real-time SNP genotyping for molecular diagnosis of FMF.
- TaqMan assay technology for profiling miR-148b and miR-17 expression.
- Quantitative reverse transcription PCR (qRT-PCR) to assess Caspase-1 gene expression.
Main Results:
- miR-17 was significantly upregulated (P=0.006) and miR-148b was significantly downregulated (P=0.030) in FMF patients compared to healthy controls.
- Caspase-1 gene expression was significantly upregulated in FMF patients (P=0.033).
Conclusions:
- miR-17 and miR-148b show potential as regulatory biomarkers for FMF.
- Elevated Caspase-1 expression suggests it as a potential therapeutic target for managing FMF-related inflammation.
