Department of Medical Pharmacology, Bursa Uludag University Faculty of Medicine, Nilufer-Bursa, Turkey.
Department of Rheumatology, Bursa Uludag University Faculty of Medicine, Nilufer-Bursa, Turkey.
Indian J Med Res. 2024 Jul;160(1):102-108. doi: 10.25259/ijmr_985_23.
Background & objectives Familial Mediterranean Fever (FMF) manifests as a hereditary condition characterized by repeated bouts of fever, abdominal, chest, and joint discomfort, and swelling. Colchicine is the most common form of treatment, but it does not eliminate the disease. The underlying causes of the inflammatory mechanism are still not fully known. Methods A total of 20 healthy controls, 16 individuals with FMF in the attack period, and 14 in the remission period participated in the study. ITGA9, ITGB1, OPN, TNC, VEGF, VCAM-1, TGM2, TSP-1, Emilin-1, and vWF levels were measured by ELISA by obtaining serum from blood samples of individuals. In addition, gene expressions of α9β1 (ITGA9, ITGB1) and its best known ligands (TNC, SPP1) were analyzed by quantitative real-time PCR (qPCR). Results The findings of this study showed that serum levels of α9β1 and its ligands were higher in individuals with FMF in the attack period than in the healthy controls and the FMF group in the remission period (P<0.05). The marker levels of the healthy group were also higher than those in the remission period (p<0.05). In addition, when the gene expressions were compared between the healthy controls and FMF group, no significant difference was found for ITGA9, ITGB1, TNC, and SPP1 genes. Interpretation & conclusions The function of α9β1 and its ligands in FMF disease was investigated for the first time in this study as per our knowledge. Serum levels of these biomarkers may help identify potential new targets for FMF disease diagnosis and treatment approaches.
背景与目的 家族性地中海热（FMF）表现为一种遗传性疾病，其特征为反复发作的发热、腹部、胸部和关节不适以及肿胀。秋水仙碱是最常见的治疗方法，但它并不能消除这种疾病。炎症机制的根本原因仍不完全清楚。
方法 本研究共纳入 20 名健康对照者、16 名处于发作期的 FMF 患者和 14 名缓解期的 FMF 患者。通过采集个体的血清样本，用 ELISA 法测定 ITGA9、ITGB1、OPN、TNC、VEGF、VCAM-1、TGM2、TSP-1、Emilin-1 和 vWF 的水平。此外，通过定量实时 PCR（qPCR）分析了α9β1（ITGA9、ITGB1）及其最佳已知配体（TNC、SPP1）的基因表达。
结果 本研究结果表明，处于发作期的 FMF 患者的血清α9β1及其配体水平高于健康对照组和缓解期的 FMF 组（P<0.05）。健康组的标志物水平也高于缓解期（p<0.05）。此外，当比较健康对照组和 FMF 组的基因表达时，ITGA9、ITGB1、TNC 和 SPP1 基因之间没有发现显著差异。
结论 据我们所知，这是首次在 FMF 疾病中研究α9β1及其配体的功能。这些生物标志物的血清水平可能有助于确定 FMF 疾病诊断和治疗方法的潜在新靶点。
