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Novel germline JAK2 mutation causing PV-like erythrocytosis in 3 generations. Amelioration by Ropeg-Interferon.
Am J Hematol
July 2024
Division of Hematology & Hematologic Malignancies, Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA.
Article Synopsis
- - Polycythemia vera (PV) is caused by mutations in the JAK2 gene, often leading to elevated red blood cell counts; however, a 38-year-old woman presented with a novel mutation in the JAK2 pseudokinase domain instead of the common ones.
- - Genetic testing revealed this mutation was inherited, as her mother and son also displayed similar symptoms of erythrocytosis, and their blood showed abnormal growth patterns typical of PV.
- - Treatment with Ropeginterferon-alfa-2b (Ropeg-IFN-α) successfully induced remission and reduced JAK2 activity, highlighting a unique interaction between this therapy and JAK2 signaling that differs from typical treatments for PV.
Erythropoietin Activates Autophagy to Regulate Apoptosis and Angiogenesis of Periodontal Ligament Stem Cells via the Akt/ERK1/2/BAD Signaling Pathway under Inflammatory Microenvironment.
Stem Cells Int
September 2022
Luzhou Key Laboratory of Orofacial Reconstruction and Regeneration, The Affiliated Stomatology Hospital of Southwest Medical University & Institute of Stomatology, Southwest Medical University, Luzhou, China.
Background: Angiogenic tissue engineering is a vital problem waiting to be settled for periodontal regeneration. Erythropoietin, a multieffect cytokine, has been reported as a protective factor for cell fate. According to our previous study, erythropoietin has a significantly angiogenic effect on periodontal ligament stem cells.
View Article and Find Full Text PDFPretreatment with diazoxide and erythropoietin: A novel strategy to prevent paraplegia after aortic surgery.
J Thorac Cardiovasc Surg
June 2018
Division of Cardiac Surgery, The Boston University School of Medicine, Boston, Mass. Electronic address:
Erythropoietin mediates brain-vascular-kidney crosstalk and may be a treatment target for pulmonary and resistant essential hypertension.
Clin Exp Hypertens
December 2017
d Division of Nephrology, Department of Internal Medicine , Koç University School of Medicine, Istanbul , Turkey.
Organ crosstalk pathways represent the next frontier for target-mining in molecular medicine for existing syndromes. Pulmonary hypertension and resistant essential hypertension are syndromes that have been proven elusive in etiology, and frequently refractory to first-line management. Underlying crosstalk mechanisms, not yet considered in these treatments, may hinder outcomes or unlock novel treatments.
View Article and Find Full Text PDFTransfection of primary brain capillary endothelial cells for protein synthesis and secretion of recombinant erythropoietin: a strategy to enable protein delivery to the brain.
Cell Mol Life Sci
July 2017
Laboratory of Neurobiology, Biomedicine Group, Department of Health Science and Technology, Aalborg University, Frederik Bajers Vej 3B, 2.104, 9220, Aalborg East, Denmark.
Treatment of chronic disorders affecting the central nervous system (CNS) is complicated by the inability of drugs to cross the blood-brain barrier (BBB). Non-viral gene therapy applied to brain capillary endothelial cells (BCECs) denotes a novel approach to overcome the restraints in this passage, as turning BCECs into recombinant protein factories by transfection could result in protein secretion further into the brain. The present study aims to investigate the possibility of transfecting primary rat brain endothelial cells (RBECs) for recombinant protein synthesis and secretion of the neuroprotective protein erythropoietin (EPO).
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