Evaluation of the MEFV gene expression in Egyptian patients with familial Mediterranean fever

Abstract

Background Familial Mediterranean fever (FMF) is the most common autosomal recessive autoinflammatory disease worldwide, mainly affecting patients of Mediterranean origin. It is the first hereditary periodic fever syndrome whose MEFV gene has been identified. Correlation between the mRNA level of the MEFV gene and FMF pathogenesis is elusive. Aim This study aims to investigate the relationship between common mutations in MEFV gene and the mRNA expression in Egyptian patients with FMF, as well as the phenotype/genotype correlation. Patients and methods This study included 65 patients with FMF, who were chosen based on clinical criteria as well as 26 healthy controls. Mutation detection was performed by direct Sanger sequencing and restriction fragment length polymorphism. Quantitative real-time PCR was employed to assess the relative expression level of the MEFV gene. Results The data revealed significantly lower MEFV gene expression in patients compared with healthy controls (P = 0.001). MEFV mRNA expression level was lower in patients with identified mutations compared with those with undetected mutations. However, the difference was statistically insignificant. Additionally, we found that the MEFV gene expression level was not associated with age, consanguinity, disease severity, or serum amyloid A levels. Conclusion The study confirmed the relation between reduced MEFV expression level and the FMF disease, which emphasizes the role of gene expression in the pathogenesis of this disease.