ETNK1 mutations induce a mutator phenotype that can be reverted with phosphoethanolamine
Diletta Fontana
(Department of Medicine and Surgery, University of Milano - Bicocca)
Mario Mauri
(Department of Medicine and Surgery, University of Milano - Bicocca)
Rossella Renso
(Department of Medicine and Surgery, University of Milano - Bicocca)
Mattia Docci
(Department of Medicine and Surgery, University of Milano - Bicocca)
Ilaria Crespiatico
(Department of Medicine and Surgery, University of Milano - Bicocca)
Lisa M. Røst
(Department of Biotechnology and Food Science, Norwegian University of Science and Technology)
Mi Jang
(Department of Biotechnology and Food Science, Norwegian University of Science and Technology)
Antonio Niro
(Department of Medicine and Surgery, University of Milano - Bicocca)
Deborah D’Aliberti
(Department of Medicine and Surgery, University of Milano - Bicocca)
Luca Massimino
(Department of Medicine and Surgery, University of Milano - Bicocca)
Mayla Bertagna
(Department of Medicine and Surgery, University of Milano - Bicocca)
Giovanni Zambrotta
(Department of Medicine and Surgery, University of Milano - Bicocca)
Mario Bossi
(Department of Medicine and Surgery, University of Milano - Bicocca)
Stefania Citterio
(Department of Biotechnology and Biosciences, University of Milano - Bicocca)
Barbara Crescenzi
(Centro Ricerche Emato-Oncologiche, University of Perugia)
Francesca Fanelli
(Department of Life Sciences, University of Modena and Reggio Emilia)
Valeria Cassina
(Department of Medicine and Surgery, University of Milano - Bicocca)
Roberta Corti
(Department of Medicine and Surgery, University of Milano - Bicocca)
Domenico Salerno
(Department of Medicine and Surgery, University of Milano - Bicocca)
Luca Nardo
(Department of Medicine and Surgery, University of Milano - Bicocca)
Clizia Chinello
(Department of Medicine and Surgery, University of Milano - Bicocca)
Francesco Mantegazza
(Department of Medicine and Surgery, University of Milano - Bicocca)
Cristina Mecucci
(Centro Ricerche Emato-Oncologiche, University of Perugia)
Fulvio Magni
(Department of Medicine and Surgery, University of Milano - Bicocca)
Guido Cavaletti
(Department of Medicine and Surgery, University of Milano - Bicocca)
Per Bruheim
(Department of Biotechnology and Food Science, Norwegian University of Science and Technology)
Delphine Rea
(Service d’Hématologie adulte, Hôpital Saint-Louis)
Steen Larsen
(X-lab, Center for Healthy Aging, Department of Biomedical Sciences, University of Copenhagen)
Carlo Gambacorti-Passerini
(Department of Medicine and Surgery, University of Milano - Bicocca)
Rocco Piazza
(Department of Medicine and Surgery, University of Milano - Bicocca)
ETNK1 mutations are recurrent in leukemia but how they contribute to oncogenesis is still unclear. Here, the authors show that ETNK1 mutations increase mitochondrial activity, ROS and H2AX levels and that these effects can be rescued upon phosphoethanolamine supplementation.
Diletta Fontana, Mario Mauri, Rossella Renso, et al. (2020). "ETNK1 mutations induce a mutator phenotype that can be reverted with phosphoethanolamine". Nature Communications. https://doi.org/10.1038/s41467-020-19721-w