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Vitamin D 24-hydroxylaze (CYP24A1) gene is upregulated in JAK2V617F positive ET and PMF

Vitamin D is myeloid cell-differentiating and proliferation controlling molecule. One of the metabolizing enzyme for vitamin D synthesis and degradation is the mitochondrial enzyme D-24-hydroxylaze (CYP24A1) that maps to 20q13.2, below the telomeric end of common deleted region in MPN. Aim: We studied the expression of CYP24A1 in a cohort of MPN patients and correlated this to their JAK2 V617F mutation status and hematological data. Methods: Fifty newly diagnosed, untreated patients with MPN (12 PV, 26 ET and 12 PMF) were taken into the study after obtaining informed consent. RNA was isolated from unfractionated bone marrow MNCs and after RT tested for expression of CYP24A1 (AB Hs00989014 TaqMan Assay) in AB7300 Real-time PCR analyzer. Data of relative expression of CYP24A1 were correlated to JAK2 mutation status and their core hematological parameters. Results: For entire MPN group CYP 24A1 was not differently expressed concerning the presence of JAK2V617F mutation:7, 823 ∆CT, median for JAK2+ vs. 8, 77 for JAK2- (p=0, 10). However, when ET( 67%JAK2+) and PMF( 66%JAK2+) were compared to their JAK2-mutation negative counterparts the expression was significantly higher in JAK2+ cases (7, 48 vs 8, 92 p 0, 046 and 7, 4 4 vs 8, 42 respectively ( Fig1). There was no correlation of CYP24A1 expression with age, blood counts or ALP score of the patients.

Vitamin D 24-hydroxylaze; JAK2; MPN

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