From gene to disease; JAK2 and polycythaemia vera
Koene, H.R.; Biemond, B.J.; van der Schoot, C.E.
Nederlands Tijdschrift Voor Geneeskunde 151(32): 1784-1787
2007
ISSN/ISBN: 0028-2162 PMID: 17822250 Document Number: 612887
The identification of a point mutation in the JAK2 gene in most patients with polycythaemia vera (PV) has led to increased insight into the pathogenesis of the disease. The mutation causes cytokine-independent growth and proliferation of haematopoietic precursor cells, leading to erythrocytosis. The JAK2-V617F mutation is present in 65-97% of PV-patients and, when found, is indicative for the disease. Future research will have to show if the mutated gene can serve as a target for specific, antiproliferative therapy.