Van gen naar ziekte; JAK2 en polycythaemia vera

Autor: Koene, H. R., Biemond, B. J., van der Schoot, C. E.
Přispěvatelé: Clinical Haematology, Amsterdam institute for Infection and Immunity, Cancer Center Amsterdam, Landsteiner Laboratory
Jazyk: Dutch; Flemish
Rok vydání: 2007
Předmět:
Zdroj: Nederlands tijdschrift voor geneeskunde, 151(32), 1784-1787. Bohn Stafleu van Loghum
ISSN: 0028-2162
Popis: 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
Databáze: OpenAIRE