Microglial signalling pathway deficits associated with the patient derived R47H TREM2 variants linked to AD indicate inability to activate inflammasome

Sci Rep. 2021 Jun 25;11(1):13316. doi: 10.1038/s41598-021-91207-1.

Abstract

The R47H variant of the microglial membrane receptor TREM2 is linked to increased risk of late onset Alzheimer's disease. Human induced pluripotent stem cell derived microglia (iPS-Mg) from patient iPSC lines expressing the AD-linked R47Hhet TREM2 variant, common variant (Cv) or an R47Hhom CRISPR edited line and its isogeneic control, demonstrated that R47H-expressing iPS-Mg expressed a deficit in signal transduction in response to the TREM2 endogenous ligand phosphatidylserine with reduced pSYK-pERK1/2 signalling and a reduced NLRP3 inflammasome response, (including ASC speck formation, Caspase-1 activation and IL-1beta secretion). Apoptotic cell phagocytosis and soluble TREM2 shedding were unaltered, suggesting a disjoint between these pathways and the signalling cascades downstream of TREM2 in R47H-expressing iPS-Mg, whilst metabolic deficits in glycolytic capacity and maximum respiration were reversed when R47H expressing iPS-Mg were exposed to PS+ expressing cells. These findings suggest that R47H-expressing microglia are unable to respond fully to cell damage signals such as phosphatidylserine, which may contribute to the progression of neurodegeneration in late-onset AD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alzheimer Disease / metabolism*
  • Brain / metabolism
  • Cells, Cultured
  • Humans
  • Induced Pluripotent Stem Cells / metabolism
  • Inflammasomes / metabolism*
  • Membrane Glycoproteins / metabolism*
  • Microglia / metabolism*
  • Phagocytosis / physiology
  • Receptors, Immunologic / metabolism*
  • Signal Transduction / physiology*

Substances

  • Inflammasomes
  • Membrane Glycoproteins
  • Receptors, Immunologic
  • TREM2 protein, human