Endothelial Cells Harbouring the JAK2V617F Mutation Display Pro-Adherent and Pro-Thrombotic Features

Thromb Haemost. 2018 Sep;118(9):1586-1599. doi: 10.1055/s-0038-1667015. Epub 2018 Aug 13.

Abstract

Thromboembolic events are the main cause of mortality in BCR-ABL1-negative myeloproliferative neoplasms (MPNs) but their underlying mechanisms are largely unrecognized. The Janus kinase 2 (JAK2)V617F mutation is the most frequent genetic alteration leading to MPN. Usually found in haematopoietic progenitors and stem cells, this mutation has also been described in endothelial cells (ECs) of MPN patients. In this study, we have questioned the impact of the JAK2V617F mutation on EC phenotype and functions. We developed an induced pluripotent stem cells strategy to compare JAK2 mutant and wild-type ECs. Transcriptomic assays showed that several genes and pathways involved in inflammation, cell adhesion and thrombotic events were over-represented in JAK2V617F ECs and expression levels of von Willebrand factor and P-selectin (CD62P) proteins were increased. Finally, we found that leucocytes from MPN patients adhere more tightly to JAK2V617F ECs. Our results show that JAK2V617F ECs have a pro-inflammatory and pro-thrombotic phenotype and were functionally pro-adherent.

MeSH terms

  • Blood Platelets / physiology*
  • Cell Adhesion / genetics
  • Cell Differentiation
  • Cells, Cultured
  • Endothelial Cells / physiology*
  • Fusion Proteins, bcr-abl / metabolism
  • Gene Expression Profiling
  • Humans
  • Induced Pluripotent Stem Cells / physiology*
  • Janus Kinase 2 / genetics*
  • Mutation / genetics
  • Myeloid Progenitor Cells / physiology*
  • Myeloproliferative Disorders / genetics*
  • Thrombosis / genetics*
  • Transgenes / genetics

Substances

  • BCR-ABL1 fusion protein, human
  • Fusion Proteins, bcr-abl
  • Janus Kinase 2