Misfolding of HLA-B27 as a result of its B pocket suggests a novel mechanism for its role in susceptibility to spondyloarthropathies

J Immunol. 1999 Dec 15;163(12):6665-70.

Abstract

The MHC class I protein HLA-B27 is strongly associated with susceptibility to spondyloarthropathies and can cause arthritis when expressed in rats and mice, implying a direct role in disease pathogenesis. A prominent hypothesis to explain this role suggests that the unique peptide binding specificity of HLA-B27 confers an ability to present arthritogenic peptides. The B pocket, a region of the peptide binding groove that is an important determinant of allele-specific peptide binding, is thought to be critical for arthritogenicity. However, this hypothesis remains unproven. We show that in addition to its role in peptide selection, the B pocket causes a portion of the pool of assembling HLA-B27 heavy chains in the endoplasmic reticulum to misfold, resulting in their degradation in the cytosol. The misfolding phenotype is corrected by replacing the HLA-B27 B pocket with one from HLA-A2. Our results suggest an alternative to the arthritogenic peptide hypothesis. Misfolding and its consequences, rather than allele-specific peptide presentation, may underlie the strong link between the HLA-B27 B pocket and susceptibility to spondyloarthropathies.

Publication types

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

MeSH terms

  • Amino Acid Substitution
  • Antigen Presentation
  • Arthritis / etiology
  • Arthritis / immunology*
  • Arthritis / metabolism
  • Cytosol / immunology
  • Cytosol / metabolism
  • Disease Susceptibility
  • HLA-B27 Antigen / chemistry
  • HLA-B27 Antigen / metabolism*
  • HLA-B27 Antigen / physiology
  • Humans
  • Peptide Fragments / chemistry
  • Peptide Fragments / immunology
  • Peptide Fragments / metabolism*
  • Peptide Fragments / physiology
  • Protein Binding / immunology
  • Protein Folding*
  • Spondylitis / etiology
  • Spondylitis / immunology*
  • Spondylitis / metabolism

Substances

  • HLA-B27 Antigen
  • Peptide Fragments