Tolerance checkpoint bypass permits emergence of pathogenic T cells to neuromyelitis optica autoantigen aquaporin-4

Proc Natl Acad Sci U S A. 2016 Dec 20;113(51):14781-14786. doi: 10.1073/pnas.1617859114. Epub 2016 Dec 8.

Abstract

Aquaporin-4 (AQP4)-specific T cells are expanded in neuromyelitis optica (NMO) patients and exhibit Th17 polarization. However, their pathogenic role in CNS autoimmune inflammatory disease is unclear. Although multiple AQP4 T-cell epitopes have been identified in WT C57BL/6 mice, we observed that neither immunization with those determinants nor transfer of donor T cells targeting them caused CNS autoimmune disease in recipient mice. In contrast, robust proliferation was observed following immunization of AQP4-deficient (AQP4-/-) mice with AQP4 peptide (p) 135-153 or p201-220, peptides predicted to contain I-Ab-restricted T-cell epitopes but not identified in WT mice. In comparison with WT mice, AQP4-/- mice used unique T-cell receptor repertoires for recognition of these two AQP4 epitopes. Donor T cells specific for either determinant from AQP4-/-, but not WT, mice induced paralysis in recipient WT and B-cell-deficient mice. AQP4-specific Th17-polarized cells induced more severe disease than Th1-polarized cells. Clinical signs were associated with opticospinal infiltrates of T cells and monocytes. Fluorescent-labeled donor T cells were detected in CNS lesions. Visual system involvement was evident by changes in optical coherence tomography. Fine mapping of AQP4 p201-220 and p135-153 epitopes identified peptides within p201-220 but not p135-153, which induced clinical disease in 40% of WT mice by direct immunization. Our results provide a foundation to evaluate how AQP4-specific T cells contribute to AQP4-targeted CNS autoimmunity (ATCA) and suggest that pathogenic AQP4-specific T-cell responses are normally restrained by central tolerance, which may be relevant to understanding development of AQP4-reactive T cells in NMO.

Keywords: ENMO; T-cell receptor; aquaporin-4; neuromyelitis optica; tolerance.

Publication types

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

MeSH terms

  • Animals
  • Aquaporin 4 / genetics*
  • Aquaporin 4 / metabolism*
  • Autoantibodies / immunology
  • Autoantigens / chemistry*
  • Autoimmune Diseases / metabolism
  • Cell Proliferation
  • Central Nervous System
  • Epitope Mapping
  • Epitopes, T-Lymphocyte / immunology*
  • Female
  • Flow Cytometry
  • Immune Tolerance
  • Immunoglobulin G / immunology
  • Inflammation
  • Leukocytes / cytology
  • Mice
  • Mice, Inbred C57BL
  • Mice, Transgenic
  • Neuromyelitis Optica / metabolism*
  • Spleen / cytology
  • T-Lymphocytes / cytology*
  • Th17 Cells / cytology

Substances

  • Aqp4 protein, mouse
  • Aquaporin 4
  • Autoantibodies
  • Autoantigens
  • Epitopes, T-Lymphocyte
  • Immunoglobulin G