Inactivation of the SLC25A1 gene during embryogenesis induces a unique senescence program controlled by p53.

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Tác giả: Christopher Albanese, Maria Laura Avantaggiati, Harvey R Fernandez, Eric Glasgow, Lei Jiang, Anna Kasprzyk-Pawelec, Alec McIntosh, Rami M Mosaoa, Gray W Pearson, Raneen Rahhal, Mingjun Tan, Jerry Vockley

Ngôn ngữ: eng

Ký hiệu phân loại: 153.1534 Memory and learning

Thông tin xuất bản: England : Cell death and differentiation , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 751556

Germline inactivating mutations of the SLC25A1 gene contribute to various human disorders, including Velocardiofacial (VCFS), DiGeorge (DGS) syndromes and combined D/L-2-hydroxyglutaric aciduria (D/L-2HGA), a severe systemic disease characterized by the accumulation of 2-hydroxyglutaric acid (2HG). The mechanisms by which SLC25A1 loss leads to these syndromes remain largely unclear. Here, we describe a mouse model of SLC25A1 deficiency that mimics human VCFS/DGS and D/L-2HGA. Surprisingly, inactivation of both Slc25a1 alleles results in alterations in the development of multiple organs, and in a severe proliferation defect by activating two senescence programs, oncogene-induced senescence (OIS) and mitochondrial dysfunction-induced senescence (MiDAS), which converge upon the induction of the p53 tumor suppressor. Mechanistically, cells and tissues with dysfunctional SLC25A1 protein undergo metabolic and transcriptional rewiring leading to the accumulation of 2HG via a non-canonical pathway and to the depletion of nicotinamide adenine dinucleotide, NAD
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