Pathogenesis of multiple sclerosis via environmental and genetic dysregulation of N-glycosylation

Semin Immunopathol. 2012 May;34(3):415-24. doi: 10.1007/s00281-012-0307-y. Epub 2012 Apr 11.

Abstract

Autoimmune diseases such as multiple sclerosis (MS) result from complex and poorly understood interactions of genetic and environmental factors. A central role for T cells in MS is supported by mouse models, association of the major histocompatibility complex region, and association of critical T cell growth regulator genes such as interleukin-2 receptor (IL-2RA) and interleukin-7 receptor (IL-7RA). Multiple environmental factors (vitamin D(3) deficiency and metabolism) converge with multiple genetic variants (IL-7RA, IL-2RA, MGAT1, and CTLA-4) to dysregulate Golgi N-glycosylation in MS, resulting in T cell hyperactivity, loss of self-tolerance and in mice, a spontaneous MS-like disease with neurodegeneration. Here, we review the genetic and biological interactions that regulate MS pathogenesis through dysregulation of N-glycosylation and how this may enable individualized therapeutic approaches.

Publication types

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

MeSH terms

  • Acyltransferases / genetics
  • Animals
  • Autoimmunity*
  • CTLA-4 Antigen / genetics
  • Glycosylation
  • Humans
  • Interleukin-2 Receptor alpha Subunit / genetics
  • Mice
  • Mice, Inbred C57BL
  • Multiple Sclerosis / genetics*
  • Multiple Sclerosis / immunology*
  • Multiple Sclerosis / metabolism
  • Multiple Sclerosis / pathology
  • N-Acetylglucosaminyltransferases
  • Receptors, Interleukin-7 / genetics
  • T-Lymphocytes / immunology*

Substances

  • CTLA-4 Antigen
  • Interleukin-2 Receptor alpha Subunit
  • Receptors, Interleukin-7
  • interleukin-7 receptor, alpha chain
  • Acyltransferases
  • MGAT1 protein, mouse
  • N-Acetylglucosaminyltransferases