SDHA gain-of-function engages inflammatory mitochondrial retrograde signaling via KEAP1-Nrf2

Nat Immunol. 2019 Oct;20(10):1311-1321. doi: 10.1038/s41590-019-0482-2. Epub 2019 Sep 16.

Abstract

Whether screening the metabolic activity of immune cells facilitates discovery of molecular pathology remains unknown. Here we prospectively screened the extracellular acidification rate as a measure of glycolysis and the oxygen consumption rate as a measure of mitochondrial respiration in B cells from patients with primary antibody deficiency. The highest oxygen consumption rate values were detected in three study participants with persistent polyclonal B cell lymphocytosis (PPBL). Exome sequencing identified germline mutations in SDHA, which encodes succinate dehydrogenase subunit A, in all three patients with PPBL. SDHA gain-of-function led to an accumulation of fumarate in PPBL B cells, which engaged the KEAP1-Nrf2 system to drive the transcription of genes encoding inflammatory cytokines. In a single patient trial, blocking the activity of the cytokine interleukin-6 in vivo prevented systemic inflammation and ameliorated clinical disease. Overall, our study has identified pathological mitochondrial retrograde signaling as a disease modifier in primary antibody deficiency.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anti-Inflammatory Agents / pharmacology
  • B-Lymphocytes / immunology*
  • Cell Respiration
  • Cells, Cultured
  • Electron Transport Complex II / genetics*
  • Exome Sequencing
  • Fumarates / metabolism
  • Glycolysis
  • Humans
  • Inflammation / genetics
  • Inflammation / metabolism*
  • Interleukin-6 / antagonists & inhibitors
  • Kelch-Like ECH-Associated Protein 1 / metabolism
  • Lymphocytosis / immunology*
  • Mitochondria / metabolism*
  • Mutation / genetics*
  • NF-E2-Related Factor 2 / metabolism
  • Oxygen Consumption
  • Prospective Studies
  • Signal Transduction

Substances

  • Anti-Inflammatory Agents
  • Fumarates
  • Interleukin-6
  • Kelch-Like ECH-Associated Protein 1
  • NF-E2-Related Factor 2
  • NFE2L2 protein, human
  • Electron Transport Complex II
  • SDHA protein, human