Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING

Cell Rep. 2018 Apr 24;23(4):1112-1123. doi: 10.1016/j.celrep.2018.03.115.

Abstract

The cellular sensor stimulator of interferon genes (STING) initiates type I interferon (IFN) and cytokine production following association with cyclic dinucleotides (CDNs) generated from intracellular bacteria or via a cellular synthase, cGAS, after binding microbial or self-DNA. Although essential for protecting the host against infection, unscheduled STING signaling is now known to be responsible for a variety of autoinflammatory disorders. Here, we report a gain-of-function mutation in STING (R284S), isolated from a patient who did not require CDNs to augment activity and who manifested a constitutively active phenotype. Control of the Unc-51-like autophagy activating kinase 1 (ULK1) pathway, which has previously been shown to influence STING function, was potently able to suppress STING (R284S) activity to alleviate cytokine production. Our findings add to the growing list of inflammatory syndromes associated with spontaneous STING signaling and provide a therapeutic strategy for the treatment of STING-induced inflammatory disease.

Keywords: AMPK inhibitor; STING; STING inhibitor; ULK1 phosphorylation; autoimmune disease; gain-of-function mutation; inflammatory disease; type I interferonopathy.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Autophagy / genetics
  • Autophagy / immunology*
  • Autophagy-Related Protein-1 Homolog / genetics
  • Autophagy-Related Protein-1 Homolog / immunology
  • Gain of Function Mutation*
  • HEK293 Cells
  • Humans
  • Inflammation / genetics
  • Inflammation / immunology
  • Inflammation / pathology
  • Intracellular Signaling Peptides and Proteins / genetics
  • Intracellular Signaling Peptides and Proteins / immunology
  • Membrane Proteins / genetics
  • Membrane Proteins / immunology*
  • Mice
  • Mice, Knockout

Substances

  • Intracellular Signaling Peptides and Proteins
  • Membrane Proteins
  • STING1 protein, human
  • Sting1 protein, mouse
  • Autophagy-Related Protein-1 Homolog
  • ULK1 protein, human
  • Ulk1 protein, mouse