Purpose: The purpose of this study was to investigate the frequency of JAK2V617F gene mutation in patients with polycythemia vera (PV) and to compare the results with the presence of endogenous erythroid colony (EEC) formation.
Methods: Peripheral blood and bone marrow samples of 28 patients with PV were analyzed. The diagnosis of PV was established according to the bone marrow criteria of the World Health Organization (WHO). Mutation of JAK2V617F was determined by allele-specific PCR (AS-PCR) analysis. For detection of EEC formation we used assays of human clonogenic heamatopoietic progenitor cells with agar-leukocyte conditioned medium (Agar-LCM) without recombinant human erythropoietin (EPO).
Results: Mutation was found in the samples of the peripheral blood in 26/28 (92.9%) PV patients. EEC formation was obtained in the sample of bone marrow in 27/28 (96.4%) PV patients. In 25/28 (89.2%) patients we detected presence of EEC formation and mutation of JAK2V617F at the same time.
Conclusion: Considering these results, we hypothesized that the EEC formation observed in myeloproliferative disorders could be partially due to the JAK2-dependent activation signaling pathway.
Background: Excessive intake of fatty acids is a key factor contributing to metabolic dysfunction-associated steatotic liver disease (MASLD). However, the effects of saturated fatty acids (SFA) and unsaturated fatty acids (UFA) on the development of MASLD are uncertain. Therefore, we conducted two-sample Mendelian randomization studies and animal experiments to explore the effects of SFA, monounsaturated fatty acids (MUFA) and polyunsaturated fatty acids (PUFA) on the risk of developing MASLD.
Background: Mitochondrial DNA (mtDNA) pathogenic variants have been reported in several solid tumors including ovarian cancer (OC), the most lethal gynecologic malignancy, and raised interest as they potentially induce mitochondrial dysfunction and rewiring of cellular metabolism. Despite advances in recent years, functional characterization of mtDNA variants in cancer and their possible modulation of drug response remain largely uncharted.
Methods: Here, we characterized mtDNA variants in OC patient derived xenografts (PDX) and investigated their impact on cancer cells at multiple levels.
Cholestasis caused by impaired bile secretion in the liver is associated with the accumulation of primary bile acids (BA): cholic acid (CA) and chenodeoxycholic acid (CDCA) in the cells of this organ. The paper studies the uncoupling effect of the CA and CDCA on the succinate-fueled rat liver mitochondria under conditions of ΔpH to Δψ conversion by nigericin. It has been established that without nigericin, the dependence of the resting-state (state 4) respiration rate on the concentrations of these BA is nonlinear and is described by a parabolic equation.
Purpose: Currently, maxillary sinus floor (SF) elevation is based on off-the-shelf allogeneic, xenogeneic or synthetic bone augmentation materials (BAM) that are implanted via an open lateral sinus wall approach (OSFE). However, this invasive method is associated with postoperative complications caused by an inadequate blood supply of the alveolar ridge. Balloon-assisted procedures are minimal invasive alternatives with lower complication rates.
Gut hormones control intestinal function, metabolism and appetite, and have been harnessed therapeutically to treat type 2 diabetes and obesity. Our understanding of the enteroendocrine axis arises largely from animal studies, but intestinal organoid models make it possible to identify, genetically modify and purify human enteroendocrine cells (EECs). This study aimed to map human EECs using single-cell RNA sequencing.
