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Information × Registration Number 0223U000011, 0120U100749 , R & D reports Title To study the significance of alternative splicing of the SorL1 gene for impaired expression of lipoprotein lipase in patients with chronic lymphocytic leukemia affected due to Chornobyl NPP accident popup.stage_title Head Diahil Iryna S., Chumak Anatolii A., Доктор медичних наук Registration Date 01-01-2023 Organization State Institution "National Research Centre For Radiation Medicine of National Academy of Medical Sciences of Ukraine" popup.description2   Subject of the study: 261 patients with chronic lymphocytic leukemia (CLL), including 107 patients who were exposed to ionizing radiation (IR) as a result of the Chornobyl NPP accident (main group) and 154 patients without exposure to IR (the group of comparison). Aim: to study the expression of classical and alternative transcripts of the SorL1 gene in patients with CLL depending on the level of LPL expression, other prognostic factors and the influence of ionizing radiation in the patients' anamnesis. Research methods: clinical, molecular genetic (polymerase chain reaction (PCR), sequencing of reaction products), statistical. Equipment: thermocycler Bio-Rad C1000 (N10450137), dispensers. Results. The expression of LPL gene with a high degree of probability makes it possible to correctly assess the mutational status of IGHV genes in 89.2% of CLL patients. The expression of LPL gene can be used as a marker for predicting the duration of the time-to-treatment period, progression-free and overall survival. An increasing risk of developing secondary solid tumors was found in CLL patients with a level of LPL gene expression higher than 300. The expression of the main SORL1 gene transcript in CLL patients with the unmutated IGHV genes is inversely correlated with the level of LPL gene expression. The number of cases with a relatively high level of transcripts F and SORL1-Δ2 expression significantly increased in patients on Binet C stage (p<0.001). A relatively high level of expression of the SORL1-Δ2 alternative transcript in patients with unmutated IGHV gene status is associated with an extremely negative course of CLL (median overall survival of 9 months vs. 61 months for a low level of expression). The median period to disease progression was significantly lower for patients with SF3B1 gene mutations and was 43 months compared to 61 months for patients without SF3B1 gene mutations (p = 0.005). The duration of overall survival of patients had a tendency to decrease i Product Description popup.authors Abramenko Iryna V Bilous Nadiia I Martina Zoya V popup.nrat_date 2023-01-01 Close