The familial Mediterranean fever protein, pyrin, is cleaved by caspase-1 and activates NF-kappaB through its N-terminal fragment

Blood. 2008 Sep 1;112(5):1794-803. doi: 10.1182/blood-2008-01-134932. Epub 2008 Jun 24.

Abstract

Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by mutations in MEFV, which encodes a 781-amino acid protein denoted pyrin. We have previously shown that pyrin regulates caspase-1 activation and IL-1beta production through interaction of its N-terminal PYD motif with the ASC adapter protein, and also modulates IL-1beta production by interaction of its C-terminal B30.2 domain with the catalytic domains of caspase-1. We now asked whether pyrin might itself be a caspase-1 substrate, and found that pyrin is cleaved by caspase-1 at Asp330, a site remote from the B30.2 domain. Pyrin variants harboring FMF-associated B30.2 mutations were cleaved more efficiently than wild-type pyrin. The N-terminal cleaved fragment interacted with the p65 subunit of NF-kappaB and with IkappaB-alpha through its 15-aa bZIP basic domain and adjacent sequences, respectively, and translocated to the nucleus. The interaction of the N-terminal fragment with p65 enhanced entrance of p65 into the nucleus. The interaction of N-terminal pyrin with IkappaB-alpha induced calpain-mediated degradation of IkappaB-alpha, thus potentiating NF-kappaB activation. Absolute and relative quantities of cleaved pyrin and IkappaB-alpha degradation products were substantially increased in leukocytes from FMF patients compared with healthy controls. Our data support a new pyrin/caspase-1 pathway for NF-kappaB activation.

Publication types

  • Research Support, N.I.H., Intramural

MeSH terms

  • Binding Sites / genetics
  • Calpain / antagonists & inhibitors
  • Caspase 1 / genetics
  • Caspase 1 / metabolism*
  • Cell Line
  • Colchicine / pharmacology
  • Cytoskeletal Proteins / chemistry
  • Cytoskeletal Proteins / genetics
  • Cytoskeletal Proteins / metabolism*
  • Familial Mediterranean Fever / genetics
  • Familial Mediterranean Fever / metabolism*
  • Genotype
  • HeLa Cells
  • Humans
  • I-kappa B Proteins / metabolism
  • In Vitro Techniques
  • Mutation
  • NF-KappaB Inhibitor alpha
  • NF-kappa B / metabolism*
  • Peptide Fragments / chemistry
  • Peptide Fragments / genetics
  • Peptide Fragments / metabolism
  • Protein Structure, Tertiary
  • Pyrin
  • Recombinant Proteins / chemistry
  • Recombinant Proteins / genetics
  • Recombinant Proteins / metabolism
  • Substrate Specificity
  • Transcription Factor RelA / metabolism
  • Transfection

Substances

  • Cytoskeletal Proteins
  • I-kappa B Proteins
  • MEFV protein, human
  • NF-kappa B
  • NFKBIA protein, human
  • Peptide Fragments
  • Pyrin
  • Recombinant Proteins
  • Transcription Factor RelA
  • NF-KappaB Inhibitor alpha
  • Calpain
  • Caspase 1
  • Colchicine