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

Accepted version
Peer-reviewed

Type

Article

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Authors

Burgener, Anne-Valérie  ORCID logo  https://orcid.org/0000-0002-8119-8703
Bantug, Glenn R 
Meyer, Benedikt J 
Higgins, Rebecca 

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.

Description

Keywords

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

Journal Title

Nat Immunol

Conference Name

Journal ISSN

1529-2908
1529-2916

Volume Title

20

Publisher

Springer Science and Business Media LLC

Rights

All rights reserved