A prevalent C3 mutation in aHUS patients causes a direct C3 convertase gain of function

Blood. 2012 May 3;119(18):4182-91. doi: 10.1182/blood-2011-10-383281. Epub 2012 Jan 13.

Abstract

Atypical hemolytic uremic syndrome (aHUS) is a rare renal thrombotic microangiopathy commonly associated with rare genetic variants in complement system genes, unique to each patient/family. Here, we report 14 sporadic aHUS patients carrying the same mutation, R139W, in the complement C3 gene. The clinical presentation was with a rapid progression to end-stage renal disease (6 of 14) and an unusually high frequency of cardiac (8 of 14) and/or neurologic (5 of 14) events. Although resting glomerular endothelial cells (GEnCs) remained unaffected by R139W-C3 sera, the incubation of those sera with GEnC preactivated with pro-inflammatory stimuli led to increased C3 deposition, C5a release, and procoagulant tissue-factor expression. This functional consequence of R139W-C3 resulted from the formation of a hyperactive C3 convertase. Mutant C3 showed an increased affinity for factor B and a reduced binding to membrane cofactor protein (MCP; CD46), but a normal regulation by factor H (FH). In addition, the frequency of at-risk FH and MCP haplotypes was significantly higher in the R139W-aHUS patients, compared with normal donors or to healthy carriers. These genetic background differences could explain the R139W-aHUS incomplete penetrance. These results demonstrate that this C3 mutation, especially when associated with an at-risk FH and/or MCP haplotypes, becomes pathogenic following an inflammatory endothelium-damaging event.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Amino Acid Substitution
  • Atypical Hemolytic Uremic Syndrome
  • Cells, Cultured / drug effects
  • Child, Preschool
  • Complement C3 / chemistry
  • Complement C3 / genetics*
  • Complement C3 / metabolism
  • Complement Factor B / metabolism
  • Disease Progression
  • Endothelial Cells / drug effects
  • Endothelium, Vascular / metabolism
  • Endothelium, Vascular / pathology
  • Female
  • Haplotypes / genetics
  • Hemolytic-Uremic Syndrome / blood
  • Hemolytic-Uremic Syndrome / complications
  • Hemolytic-Uremic Syndrome / genetics*
  • Hemolytic-Uremic Syndrome / immunology
  • Humans
  • Infant
  • Kidney Failure, Chronic / etiology
  • Kidney Glomerulus / pathology
  • Male
  • Membrane Cofactor Protein / metabolism
  • Middle Aged
  • Models, Molecular
  • Mutation, Missense*
  • Penetrance
  • Point Mutation*
  • Protein Conformation
  • Surface Plasmon Resonance
  • Young Adult

Substances

  • CD46 protein, human
  • Complement C3
  • Membrane Cofactor Protein
  • Complement Factor B