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

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Serval ID
serval:BIB_F8939056F463
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
SDHA gain-of-function engages inflammatory mitochondrial retrograde signaling via KEAP1-Nrf2.
Journal
Nature immunology
Author(s)
Burgener A.V., Bantug G.R., Meyer B.J., Higgins R., Ghosh A., Bignucolo O., Ma E.H., Loeliger J., Unterstab G., Geigges M., Steiner R., Enamorado M., Ivanek R., Hunziker D., Schmidt A., Müller-Durovic B., Grählert J., Epple R., Dimeloe S., Lötscher J., Sauder U., Ebnöther M., Burger B., Heijnen I., Martínez-Cano S., Cantoni N., Brücker R., Kahlert C.R., Sancho D., Jones R.G., Navarini A., Recher M., Hess C.
ISSN
1529-2916 (Electronic)
ISSN-L
1529-2908
Publication state
Published
Issued date
10/2019
Peer-reviewed
Oui
Volume
20
Number
10
Pages
1311-1321
Language
english
Notes
Publication types: Journal Article
Publication Status: ppublish
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.
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Web of science
Create date
20/09/2019 21:37
Last modification date
17/09/2020 8:13
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