Article
ETNK1 mutations induce a mutator phenotype that can be reverted with phosphoethanolamine.
Nature communications - 23 Nov 2020
Fontana Diletta, Mauri Mario, Renso Rossella, Docci Mattia, Crespiatico Ilaria, Røst Lisa M, Jang Mi, Niro Antonio, D'Aliberti Deborah, Massimino Luca, Bertagna Mayla, Zambrotta Giovanni, Bossi Mario, Citterio Stefania, Crescenzi Barbara, Fanelli Francesca, Cassina Valeria, Corti Roberta, Salerno Domenico, Nardo Luca, Chinello Clizia, Mantegazza Francesco, Mecucci Cristina, Magni Fulvio, Cavaletti Guido, Bruheim Per, Rea Delphine, Larsen Steen, Gambacorti-Passerini Carlo, Piazza Rocco
Abstract excerpt
Recurrent somatic mutations in ETNK1 (Ethanolamine-Kinase-1) were identified in several myeloid malignancies and are responsible for a reduced enzymatic activity. Here, we demonstrate in primary leukemic cells and in cell lines that mutated ETNK1 causes a significant increase in mitochondrial activity, ROS production, and Histone H2AX phosphorylation, ultimately driving the increased accumulation of new...
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