Differential modulation of endotoxin responsiveness by human caspase-12 polymorphisms

Nature. 2004 May 6;429(6987):75-9. doi: 10.1038/nature02451.

Abstract

Caspases mediate essential key proteolytic events in inflammatory cascades and the apoptotic cell death pathway. Human caspases functionally segregate into two distinct subfamilies: those involved in cytokine maturation (caspase-1, -4 and -5) and those involved in cellular apoptosis (caspase-2, -3, -6, -7, -8, -9 and -10). Although caspase-12 is phylogenetically related to the cytokine maturation caspases, in mice it has been proposed as a mediator of apoptosis induced by endoplasmic reticulum stress including amyloid-beta cytotoxicity, suggesting that it might contribute to the pathogenesis of Alzheimer's disease. Here we show that a single nucleotide polymorphism in caspase-12 in humans results in the synthesis of either a truncated protein (Csp12-S) or a full-length caspase proenzyme (Csp12-L). The read-through single nucleotide polymorphism encoding Csp12-L is confined to populations of African descent and confers hypo-responsiveness to lipopolysaccharide-stimulated cytokine production in ex vivo whole blood, but has no significant effect on apoptotic sensitivity. In a preliminary study, we find that the frequency of the Csp12-L allele is increased in African American individuals with severe sepsis. Thus, Csp12-L attenuates the inflammatory and innate immune response to endotoxins and in doing so may constitute a risk factor for developing sepsis.

Publication types

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

MeSH terms

  • Africa / ethnology
  • Alzheimer Disease / genetics
  • Animals
  • Apoptosis / drug effects
  • Base Sequence
  • Black or African American / genetics
  • Case-Control Studies
  • Caspase 12
  • Caspases / chemistry
  • Caspases / genetics*
  • Concanavalin A / pharmacology
  • Cytokines / blood
  • Endoplasmic Reticulum / metabolism
  • Gene Frequency
  • Genetic Predisposition to Disease / genetics
  • Genotype
  • Humans
  • Inflammation / genetics
  • Lipopolysaccharides / pharmacology*
  • NF-kappa B / antagonists & inhibitors
  • NF-kappa B / metabolism
  • Polymorphism, Single Nucleotide / genetics*
  • Primates / genetics
  • Sepsis / genetics*

Substances

  • Cytokines
  • Lipopolysaccharides
  • NF-kappa B
  • Concanavalin A
  • CASP12 protein, human
  • Caspase 12
  • Caspases