Tafazzin regulates neutrophil maturation and inflammatory response.

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Tác giả: Borko Amulic, Eve Anderson, Drinalda Cela, Kathryn Fleming, Willem Gibbs, Sarah J Groves, Angela H Nobbs, Tobias Pike, Fernando M Ponce-Garcia, Christopher M Rice, Kiran Roberts, Colin Steward, Douglas Strathdee, Ashley M Toye, Przemysław Zakrzewski

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: England : EMBO reports , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 184060

Barth syndrome (BTHS) is a rare genetic disease caused by mutations in the TAFAZZIN gene. It is characterized by neutropenia, cardiomyopathy and skeletal myopathy. Neutropenia in BTHS is associated with life-threatening infections, yet there is little understanding of the molecular and physiological causes of this phenomenon. We combined bone marrow analysis, CRISPR/Cas9 genome editing in hematopoietic stem cells and functional characterization of circulating BTHS patient neutrophils to investigate the role of TAFAZZIN in neutrophils and their progenitors. We demonstrate a partial cell intrinsic differentiation defect, along with a dysregulated neutrophil inflammatory response in BTHS, including elevated degranulation and formation of neutrophil extracellular traps (NETs) in response to calcium flux. Developmental and functional alterations in BTHS neutrophils are underpinned by perturbations in the unfolded protein response (UPR) signaling pathway, suggesting potential therapeutic avenues for targeting BTHS neutropenia.
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