MENU

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

Burgener, Anne-Valerie; Bantug, Glenn R.; Meyer, Benedikt J.; Higgins, Rebecca; Ghosh, Adhideb; Bignucolo, Olivier; Ma, Eric H.; Loeliger, Jordan; Unterstab, Gunhild; Geigges, Marco; Steiner, Rebekah; Enamorado, Michel; Ivanek, Robert; Hunziker, Danielle;

NATURE IMMUNOLOGY
2019
VL / 20 - BP / 1311 - EP / +
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.

AccesS level

MENTIONS DATA