Investigation of mvk (mevalonate kinase) and nlrp12 (nod like reseptor protein-12) genes expression levels in pati̇ents with familial mediterranean fever who were admitted to Department of Pediatrics, Duzce University Hospital

The aim of this study was to compare blood serum MVK and NLRP-12 genes expression levels in patients with Familial Mediterranean fever (FMF) with healthy controls, and to determine their clinical significance in patients with FMF. Forty patients (22 girls, 18 boys) with FMF who were admitted to Department of Pediatrics, Düzce University Hospital according to Tell Hashomer criteria and genetic analyses were enrolled in this study and were compared with ten healthy controls (4 girls, 6 boys). Complete blood count, serum iron, TIBC, IUBC, ferritin, folate, vitamin B12, 25-OH vitamin D, FT4, TSH, Na, K, Cl, Ca, P, AST, ALT, ALP, urea, BUN, creatinine, uric acid and spot urinary Ca, creatinine, microalbumin and protein levels were determined by routine laboratory methods. Levels of expression of MVK and NLRP-12 genes were determined by quantitative Real Time PCR method. There was no significant difference between FMF patients and healthy controls in terms of age and gender (p = 0.58 and p = 0.39, respectively). The mean age of symptom beginning was 5,3±3,6 years in patients with FMF. Compared to the healthy control group, a significant difference was found for the expression levels of MVK and NLRP12 genes in patients with FMF (p = 0.002 and p = 0.035, respectively). There was a significant correlations between ASC expression level and CXCL 13 and between CXCL 13 and TL-1a levels (p = 0.05 and 0.00, respectively). There was no significant relationship between ASC and TL-1a levels (p = 0.48).MVK gene expression level increased 2.0 times and NLRP12 gene expression level increased 1.5 times in patients with FMF compared to controls. In conclusion, it was found that especially serum MVK and NLRP-12 gene expression levels increased significantly in FMF patients. It has been determined that gene expression levels are related to the pathogenesis of FMF and that these genes might be used as a marker in the early diagnosis of the FMF disease. Since it is the first prospective study to determine MVK and NLRP-12 gene expression levels in FMF patients by real time PCR method, multi-center studies with many cases are required to confirm these findings on this topic. Keywords: Children, Familial Mediterrenean Fever, FMF, MVK, NLRP-12, Real Time PCR