Fire and ICE: the role of pyrin domain-containing proteins in inflammation and apoptosis

Clin Exp Rheumatol. 2002 Jul-Aug;20(4 Suppl 26):S45-53.

Abstract

The genetic bases for several human autoinflammatory syndromes have recently been identified, and the mutated proteins responsible for these diseases are rapidly being characterized. Here, we examine two of these newly identified proteins, pyrin (also called marenostrin, product of the familial Mediterranean fever locus, MEFV) and cryopyrin (product of the CAIS1 locus, and mutated in familial cold urticaria, Muckle Wells syndrome and chronic infantile neurological cutaneous and articular syndrome). Both pyrin and cryopyrin contain an N-terminal domain that encodes a death domain-related structure, now known as the pyrin domain, or PyD. We trace the molecular interactions mediated by these PyDs, examine the evolution of the family of molecules containing this domain, and discuss the function of PyD-containing proteins and their homologues. Synthesis of the available data indicates that both pyrin and cryopyrin interact via their PyDs with a common adaptor protein, ASC. ASC itself participates in at least three important cellular processes: apoptosis, recruitment and activation of pro-caspase-1 (with associated processing and secretion of IL-1beta), and activation of NF-kappaB (a transcription factor involved in both initiation and resolution of the inflammatory response). Through PyD:PyD interactions, pyrin and cryopyrin, as well as several related, but still uncharacterized PyD containing proteins, appear to modulate the activity of all three of these processes, each of which plays a crucial role in the inflammatory pathways that characterize the innate immune system.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Apoptosis / physiology*
  • Autoimmune Diseases / genetics*
  • Autoimmune Diseases / immunology
  • Autoimmune Diseases / physiopathology
  • Blood Proteins / chemistry
  • Blood Proteins / genetics
  • Blood Proteins / physiology*
  • Carrier Proteins / chemistry
  • Carrier Proteins / genetics
  • Carrier Proteins / physiology*
  • Cytoskeletal Proteins
  • Familial Mediterranean Fever / genetics
  • Familial Mediterranean Fever / physiopathology
  • Humans
  • Inflammation / physiopathology*
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • Proteins / chemistry
  • Proteins / genetics
  • Proteins / physiology*
  • Pyrin

Substances

  • Blood Proteins
  • Carrier Proteins
  • Cytoskeletal Proteins
  • MEFV protein, human
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • NLRP3 protein, human
  • Proteins
  • Pyrin