Nature Communications (Nov 2020)

ETNK1 mutations induce a mutator phenotype that can be reverted with phosphoethanolamine

  • Diletta Fontana,
  • Mario Mauri,
  • Rossella Renso,
  • Mattia Docci,
  • Ilaria Crespiatico,
  • Lisa M. Røst,
  • Mi Jang,
  • Antonio Niro,
  • Deborah D’Aliberti,
  • Luca Massimino,
  • Mayla Bertagna,
  • Giovanni Zambrotta,
  • Mario Bossi,
  • Stefania Citterio,
  • Barbara Crescenzi,
  • Francesca Fanelli,
  • Valeria Cassina,
  • Roberta Corti,
  • Domenico Salerno,
  • Luca Nardo,
  • Clizia Chinello,
  • Francesco Mantegazza,
  • Cristina Mecucci,
  • Fulvio Magni,
  • Guido Cavaletti,
  • Per Bruheim,
  • Delphine Rea,
  • Steen Larsen,
  • Carlo Gambacorti-Passerini,
  • Rocco Piazza

DOI
https://doi.org/10.1038/s41467-020-19721-w
Journal volume & issue
Vol. 11, no. 1
pp. 1 – 16

Abstract

Read online

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.