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DNase-active TREX1 frame-shift mutants induce serologic autoimmunity in mice.

Tomomi Sakai1, Takuya Miyazaki2, Dong-Mi Shin3

  • 1Laboratory of Immunogenetics, National Institute of Allergy and Infectious Diseases, NIH, Rockville, MD, USA; Department of Immunology, University of Texas Southwestern Medical Center, Dallas, TX, USA.

Journal of Autoimmunity
|March 23, 2017
PubMed
Summary

Two new mouse models with TREX1 frame-shift mutations show elevated autoantibodies against non-nuclear antigens. Treatment with an OST inhibitor suppressed autoantibody production, revealing unique autoimmune phenotypes.

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Area of Science:

  • Genetics and Molecular Biology
  • Immunology
  • Cell Biology

Background:

  • TREX1 (DNASE III) is a key DNA exonuclease localized to the endoplasmic reticulum (ER).
  • TREX1 mutations are linked to autoimmune diseases like Aicardi-Goutières syndrome (AGS), retinal vasculopathy with cerebral leukodystrophy (RVCL), and systemic lupus erythematosus (SLE).
  • N-terminal mutations affect DNase activity, while C-terminal mutations disrupt ER localization and oligosaccharyltransferase (OST) activity.

Purpose of the Study:

  • To investigate the in vivo effects of TREX1 frame-shift mutations associated with RVCL and SLE.
  • To characterize the autoimmune phenotypes in novel mouse models expressing human TREX1 mutations.
  • To explore the role of OST activity in TREX1-associated autoimmunity.

Main Methods:

  • Generation of two mouse strains with conditional expression of human TREX1 mutations (V235fs and D272fs).
  • Phenotypic analysis and serological assessment for autoantibodies in mutant mice.
  • Comparison with a TREX1-D18N mutant mouse lacking DNase activity.
  • Treatment of mutant mice with an OST inhibitor (aclasinomycin).

Main Results:

  • Both TREX1 mutant mouse strains exhibited significant elevations in serum autoantibodies, primarily against non-nuclear antigens.
  • This autoantibody profile contrasted with the DNA-specific autoantibodies seen in TREX1-D18N mutant mice.
  • No major retinal, cerebral, or renal disease phenotypes were observed in the TREX1 frame-shift mutant mice.
  • Aclacinomycin treatment rapidly suppressed autoantibody production in the mutant mice.

Conclusions:

  • TREX1 frame-shift mutations can lead to unique autoimmune phenotypes characterized by non-nuclear autoantibodies, independent of DNase activity.
  • C-terminal TREX1 mutations and associated OST dysregulation may contribute to autoimmune manifestations.
  • These mouse models provide valuable tools for studying TREX1-related autoimmune diseases and potential therapeutic strategies.