Biochemical and molecular genetic research of Mediterranean fever

Abstract

Mutations in the MEFV (Mediterranean fever) gene cause the familial Mediterranean fever. The MEFV gene encodes a purine protein, and mutations in this gene have been linked to rheumatic diseases. The aim of this study was to investigate the frequency and clinical significance of MEFV mutations in children with idiopathic arthritis before adulthood. In order to conduct research in this area, mutations in exons 2 and 10 of the MEFV gene in children without symptoms of typical Mediterranean fever were considered by direct sequencing. During our study, molecular genetic analysis of the MEFV gene was performed in a total of 96 patients. Different forms of arthritis have manifested themselves in patients. Thus, oligoarthritis was observed in 43 patients, rheumatoid factor-negative polyarthritis in 22, rheumatoid factor-positive polyarthritis in 2, systemic arthritis in 12, enthesite-related arthritis in 16 and psoriatic arthritis in 1. . MEFV mutations were detected in only 31 children (32.3%) in these patients. Of these, 25 were found to be heterozygous, 2 homozygous and 4 compound. M694V, R761H, K695R, V726A, R653H were identified in the 10th exon of the MEFV gene, and E148Q, G304R, E148V, T267I in the 2nd exon. The allelic frequency of MEFV mutations was found to be 19.27%, which is higher than the general population. In addition, there was a statistically significant difference between MEFV mutation carrier rates and different groups of arthritis. Our research shows the need for molecular genetic analysis of mutations in the MEFV gene in countries where Mediterranean fever is most prevalent.