GSE132836 A variant erythroferrone disrupts iron homeostasis in SF3B1-mutated myelodysplastic syndrome (RNA-Seq)

Contributors : Sabrina Bondu ; Anne-Sophie Alary ; Carine Lef èvre ; Alexandre Houy ; Grace Jung ; Thibaud Lefebvre ; David Rombaut ; Ismael Boussaid ; Abderrahmane Bousta ; François Guillonneau ; Prunelle Perrier ; Samar Alsafadi ; Michel Wassef ; Raphaël Margueron ; Alice Rousseau ; Nathalie Droin ; Nicolas Cagnard ; Sophie Kaltenbach ; Sus ann Winter ; Anne-Sophie Kubasch ; Didier Bouscary ; Valeria Santini ; Andrea Toma ; Mathilde Hunault ; Aspasia Stamatoullas ; Emmanuel Gyan ; Thomas Cluzeau ; Uwe Platzbecker ; Lionel Adès ; Hervé Puy ; Marc-Henri Stern ; Zoubida Karim ; Patrick Mayeux ; Elizabeta Nemeth ; Sophie Park ; Tomas Ganz ; Léon Kautz ; Olivier Kosmider ; Michaëla FontenaySeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensMyelodysplastic syndromes (MDS) with ring sideroblasts are hematopoietic stem celldisorders with erythroid dysplasia and mutations in the SF3B1 splicing factor gene. MDS patientswith SF3B1 mutations often accumulate excessive tissue iron, even in the absence oftransfusions, but the mechanisms that are responsible for their parenchymal iron overload areunknown. Body iron content, tissue distribution, and the supply of iron for erythropoiesis arecontrolled by the hormone hepcidin, which is regulated by erythroblasts through secretion of theerythroid hormone erythroferrone (ERFE). Here, we identified an alternative ERFE transcript inMDS patients with the SF3B1 mutati...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research

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Authors: Wang L, Liu H Abstract Aplastic anemia (AA) is a rare and life-threatening bone marrow failure (BMF) that results in peripheral blood cytopenia and reduced bone marrow hematopoietic cell proliferation. The symptoms are similar to myelofibrosis, myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) making diagnosis of AA complicated. The pathogenesis of AA is complex and its mechanism needs to be deciphered on an individualized basis. This review summarizes several contributions made in trying to understand AA pathogenesis in recent years which may be helpful for the development of personalized t...
Source: Hematology - Category: Hematology Tags: Hematology Source Type: research
Myelodysplastic syndromes (MDS) with ring sideroblasts are hematopoietic stem cell disorders with erythroid dysplasia and mutations in the SF3B1 splicing factor gene. Patients with MDS with SF3B1 mutations often accumulate excessive tissue iron, even in the absence of transfusions, but the mechanisms that are responsible for their parenchymal iron overload are unknown. Body iron content, tissue distribution, and the supply of iron for erythropoiesis are controlled by the hormone hepcidin, which is regulated by erythroblasts through secretion of the erythroid hormone erythroferrone (ERFE). Here, we identified an alternative...
Source: Science Translational Medicine - Category: Biomedical Science Authors: Tags: Research Articles Source Type: research
AbstractEltrombopag is an orally available thrombopoietin receptor agonist indicated for the treatment of immune thrombocytopenia (ITP). Beyond the effect on megakaryopoiesis, the drug also showed a stimulating effect on the hematopoietic stem cell with consistent clinical efficacy in aplastic anemia (AA) and myelodysplastic syndromes (MDS). Eltrombopag is highly effective in ITP and less so in AA and MDS. This observation underlines the importance of residual normal hematopoiesis, which is maximal in ITP, minimal/absent in AA, and dysregulated in MDS. In ITP, the drug at 50 –75 mg daily induced up to 85% respon...
Source: Drugs - Category: Drugs & Pharmacology Source Type: research
This is a multicenter, randomized, double-blind, two-arm study to evaluate the safety, tolerability, efficacy and PK of the combination therapy of SCY-078 plus voriconazole compared to those of voriconazole monotherapy in male and female subjects 18 years of age and older with a hematological malignancy (HM) or a myelodysplastic syndrome or aplastic anemia or hematopoietic cell transplantation (HCT) and a probable or proven invasive pulmonary aspergillosis based on EORTCMSG criteria. In addition, all subjects must be positive ( ≥0.5) for serum GMI.
Source: The Aspergillus Website - updates - Category: Respiratory Medicine Authors: Source Type: news
In conclusion, these are the first patients with myeloid malignancies associated with acquired severe platelet dysfunction and overproduction of cAMP. PMID: 31240986 [PubMed - as supplied by publisher]
Source: Platelets - Category: Hematology Tags: Platelets Source Type: research
Authors: Blautain B, Souied EH, Cohen SY PMID: 31229323 [PubMed - as supplied by publisher]
Source: Journal Francais d Ophtalmologie - Category: Opthalmology Tags: J Fr Ophtalmol Source Type: research
Conclusion: WT1 expression might be useful for distinguishing between myelodysplastic syndrome and aplastic anemia in children. PMID: 31210595 [PubMed - in process]
Source: Hematology - Category: Hematology Tags: Hematology Source Type: research
Immune-mediated processes are considered important in the pathogenesis of bone marrow failure syndromes (BFS). We previously reported that natural killer group 2D (NKG2D) ligands were expressed on pathological blood cells of patients with BFS and that NKG2D immunity may be involved in bone marrow failure. In addition to membranous NKG2D ligands on the cell surface, soluble NKG2D ligands can exist in plasma. We therefore examined the relationship between soluble NKG2D ligands and blood cell counts in 86 patients with BFS, including aplastic anemia, myelodysplastic syndrome with single lineage dysplasia, and paroxysmal noctu...
Source: Acta Haematologica - Category: Hematology Source Type: research
Abstract Immune-mediated processes are considered important in the pathogenesis of bone marrow failure syndromes (BFS). We previously reported that natural killer group 2D (NKG2D) ligands were expressed on pathological blood cells of patients with BFS and that NKG2D immunity may be involved in bone marrow failure. In addition to membranous NKG2D ligands on the cell surface, soluble NKG2D ligands can exist in plasma. We therefore examined the relationship between soluble NKG2D ligands and blood cell counts in 86 patients with BFS, including aplastic anemia, myelodysplastic syndrome with single lineage dysplasia, an...
Source: Acta Haematologica - Category: Hematology Authors: Tags: Acta Haematol Source Type: research
AbstractMyelodysplastic syndromes are clonal hematopoietic stem cell disorders characterized by cytopenia and intramedullary apoptosis. BCL-2 Ovarian Killer (BOK) is a pro-apoptotic member of the BCL-2 family of proteins which, when stabilized from endoplasmic reticulum-associated degradation (ERAD), induces apoptosis in response to ER stress. Although ER stress appropriately activates the unfolded protein response (UPR) in BOK-disrupted cells, the downstream effector signaling that includes ATF4 is defective. We used Nup98-HoxD13 (NHD13) transgenic mice to evaluate the consequences of BOK loss on hematopoiesis and leukemo...
Source: Annals of Hematology - Category: Hematology Source Type: research
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