Cellular signaling and production of galactose-deficient IgA1 in IgA nephropathy, an autoimmune disease

J Immunol Res. 2014:2014:197548. doi: 10.1155/2014/197548. Epub 2014 Jul 23.

Abstract

Immunoglobulin A (IgA) nephropathy (IgAN), the leading cause of primary glomerulonephritis, is characterized by IgA1-containing immunodeposits in the glomeruli. IgAN is a chronic disease, with up to 40% of patients progressing to end-stage renal disease, with no disease-specific treatment. Multiple studies of the origin of the glomerular immunodeposits have linked elevated circulating levels of aberrantly glycosylated IgA1 (galactose-deficient in some O-glycans; Gd-IgA1) with formation of nephritogenic Gd-IgA1-containing immune complexes. Gd-IgA1 is recognized as an autoantigen in susceptible individuals by anti-glycan autoantibodies, resulting in immune complexes that may ultimately deposit in the kidney and induce glomerular injury. Genetic studies have revealed that an elevated level of Gd-IgA1 in the circulation of IgAN patients is a hereditable trait. Moreover, recent genome-wide association studies have identified several immunity-related loci that associated with IgAN. Production of Gd-IgA1 by IgA1-secreting cells of IgAN patients has been attributed to abnormal expression and activity of several key glycosyltransferases. Substantial evidence is emerging that abnormal signaling in IgA1-producing cells is related to the production of Gd-IgA1. As Gd-IgA1 is the key autoantigen in IgAN, understanding the genetic, biochemical, and environmental aspects of the abnormal signaling in IgA1-producing cells will provide insight into possible targets for future disease-specific therapy.

Publication types

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

MeSH terms

  • Animals
  • Autoimmune Diseases / genetics
  • Autoimmune Diseases / immunology*
  • Autoimmune Diseases / metabolism*
  • Galactose / metabolism
  • Genetic Loci
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Glomerulonephritis, IGA / genetics
  • Glomerulonephritis, IGA / immunology*
  • Glomerulonephritis, IGA / metabolism*
  • Glycosylation
  • Glycosyltransferases / metabolism
  • Humans
  • Immunoglobulin A / blood
  • Immunoglobulin A / immunology*
  • Immunoglobulin A / metabolism*
  • Signal Transduction*

Substances

  • Immunoglobulin A
  • Glycosyltransferases
  • Galactose