Association of Inflammasome Gene Expression Levels with Pathogenesis of Familial Mediterranean Fever in Armenians

Int J Mol Sci. 2024 Dec 2;25(23):12958. doi: 10.3390/ijms252312958.

Abstract

Familial Mediterranean fever (FMF) is a genetically determined autoinflammatory disease transmitted mostly by an autosomal recessive mechanism and caused by point mutations of the MEFV (Mediterranean FeVer) gene. The aim of this study was to evaluate the expression of inflammasome genes (p65, Casp1, MEFV, and NLRP3) in patients with FMF compared to controls to understand the changes playing a key role in disease development. We found altered expression levels of the full-length MEFV isoform as well as Casp1 and p65 in FMF patients versus controls. This, once again, highlighted the significance of inflammasome genes in terms of FMF.

Keywords: Familial Mediterranean fever; MEFV gene; gene expression; immunity; inflammasome.

MeSH terms

  • Adolescent
  • Adult
  • Armenia
  • Case-Control Studies
  • Caspase 1 / genetics
  • Caspase 1 / metabolism
  • Eastern European People
  • Familial Mediterranean Fever* / genetics
  • Female
  • Gene Expression Regulation
  • Humans
  • Inflammasomes* / genetics
  • Inflammasomes* / metabolism
  • Male
  • Middle Aged
  • NLR Family, Pyrin Domain-Containing 3 Protein* / genetics
  • NLR Family, Pyrin Domain-Containing 3 Protein* / metabolism
  • Pyrin* / genetics
  • Young Adult

Substances

  • Inflammasomes
  • Pyrin
  • MEFV protein, human
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • Caspase 1
  • NLRP3 protein, human

Supplementary concepts

  • Armenian people