Regulation of the NLRP13 gene and evaluation of the association of proteins playing a role in proptosis with in familial mediterranean fever disease

Inflammasomes are innate immune system receptors and sensors that regulate the activation of caspase-1 and induce inflammation in response to infectious microbes and molecules derived from host proteins. They play a role in the initiation or progression of diseases such as metabolic disorders and neurodegenerative diseases. Familial Mediterranean Fever (FMF) is an autoinflammatory disease called inflammasomepathy and inflammasomes are known to play a role in disease pathogenesis. In this study, the clinical parameters of the patients and the relationship between NLRP13 and the inflammatory IL-1β, IL-18 and caspase-1 levels of 30 attack, 30 remission FMF patients and 30 healthy individuals were investigated. In addition, the regulation of gene expression, gene-specific and global methylation status of NLRP13 inflammasome, which may have a potential role in FMF, were examined. As a result, it supports that the correlation between IL-1β and disease severity provides a therapeutic benefit to patients with FMF through inhibition of IL-1β. In addition, it has been shown that caspase-1 can serve as a useful biomarker not only during the attack period but also during the inter-attack period. In FMF patients, the increase in the level of methylation in the promoter region causes inactivation of NLRP13 by silencing the NLRP13 gene due to promoter hypermethylation.