[From gene to disease; JAK2 and polycythaemia vera].
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.
Koene
H R
HR
Academisch Medisch Centrum/Universiteit van Amsterdam, afd. Inwendige Geneeskunde, Amsterdam. h.r.koene@amc.uva.nl
Biemond
B J
BJ
van der Schoot
C E
CE
D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D017354:Point Mutation; D011087:Polycythemia Vera / Q000175:diagnosis / Q000235:genetics*; D015398:Signal Transduction / Q000235:genetics