Red Blood Cell Membrane Conductance in Hereditary Haemolytic Anaemias
Electrophysiology; Haemolytic anemia; Hereditary spherocytosis
| Autores: | , , , , , , |
|---|---|
| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2019 |
| País: | España |
| Institución: | Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya) |
| Repositorio: | Recercat. Dipósit de la Recerca de Catalunya |
| OAI Identifier: | oai:recercat.cat:11351/4154 |
| Acceso en línea: | https://hdl.handle.net/11351/4154 http://hdl.handle.net/11351/4154 |
| Access Level: | acceso abierto |
| Palabra clave: | Anèmia hemolítica - Aspectes genètics Eritròcits - Fisiologia patològica Membranes cel·lulars - Permeabilitat DISEASES::Hemic and Lymphatic Diseases::Hematologic Diseases::Anemia::Anemia, Hemolytic::Anemia, Hemolytic, Congenital ANATOMY::Cells::Blood Cells::Erythrocytes Other subheadings::Other subheadings::Other subheadings::/physiopathology PHENOMENA AND PROCESSES::Metabolism::Biological Transport::Cell Membrane Permeability ENFERMEDADES::enfermedades hematológicas y linfáticas::enfermedades hematológicas::anemia::anemia hemolítica::anemia hemolítica congénita ANATOMÍA::células::células sanguíneas::eritrocitos Otros calificadores::Otros calificadores::Otros calificadores::/fisiopatología FENÓMENOS Y PROCESOS::metabolismo::transporte biológico::permeabilidad de la membrana celular |
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Red Blood Cell Membrane Conductance in Hereditary Haemolytic Anaemias |
| title |
Red Blood Cell Membrane Conductance in Hereditary Haemolytic Anaemias |
| spellingShingle |
Red Blood Cell Membrane Conductance in Hereditary Haemolytic Anaemias Petkova-Kirova, Polina Anèmia hemolítica - Aspectes genètics Eritròcits - Fisiologia patològica Membranes cel·lulars - Permeabilitat DISEASES::Hemic and Lymphatic Diseases::Hematologic Diseases::Anemia::Anemia, Hemolytic::Anemia, Hemolytic, Congenital ANATOMY::Cells::Blood Cells::Erythrocytes Other subheadings::Other subheadings::Other subheadings::/physiopathology PHENOMENA AND PROCESSES::Metabolism::Biological Transport::Cell Membrane Permeability ENFERMEDADES::enfermedades hematológicas y linfáticas::enfermedades hematológicas::anemia::anemia hemolítica::anemia hemolítica congénita ANATOMÍA::células::células sanguíneas::eritrocitos Otros calificadores::Otros calificadores::Otros calificadores::/fisiopatología FENÓMENOS Y PROCESOS::metabolismo::transporte biológico::permeabilidad de la membrana celular |
| title_short |
Red Blood Cell Membrane Conductance in Hereditary Haemolytic Anaemias |
| title_full |
Red Blood Cell Membrane Conductance in Hereditary Haemolytic Anaemias |
| title_fullStr |
Red Blood Cell Membrane Conductance in Hereditary Haemolytic Anaemias |
| title_full_unstemmed |
Red Blood Cell Membrane Conductance in Hereditary Haemolytic Anaemias |
| title_sort |
Red Blood Cell Membrane Conductance in Hereditary Haemolytic Anaemias |
| dc.creator.none.fl_str_mv |
Petkova-Kirova, Polina Hertz, Laura Danielczok, Jens Huisjes, Rick Makhro, Asya Bogdanova, Anna Mañu Pereira, M Mar |
| author |
Petkova-Kirova, Polina |
| author_facet |
Petkova-Kirova, Polina Hertz, Laura Danielczok, Jens Huisjes, Rick Makhro, Asya Bogdanova, Anna Mañu Pereira, M Mar |
| author_role |
author |
| author2 |
Hertz, Laura Danielczok, Jens Huisjes, Rick Makhro, Asya Bogdanova, Anna Mañu Pereira, M Mar |
| author2_role |
author author author author author author |
| dc.contributor.none.fl_str_mv |
Institut Català de la Salut [Petkova-Kirova P] Institute of Molecular Cell Biology, Saarland University, Homburg, Germany. [Hertz L] Theoretical Medicine and Biosciences, Saarland University, Homburg, Germany. Experimental Physics, Saarland University, Saarbrücken, Germany. [Danielczok J] Theoretical Medicine and Biosciences, Saarland University, Homburg, Germany. [Huisjes R] Department of Clinical Chemistry & Haematology, University Medical Center Utrecht, Utrecht, Netherlands. [Makhro A, Bogdanova A] Red Blood Cell Research Group, Institute of Veterinary Physiology, Vetsuisse Faculty, Zurich Center for Integrative Human Physiology (ZIHP), University of Zürich, Zurich, Switzerland. [Mañú-Pereira MDM] Vall d’Hebron Institut de Recerca, Barcelona, Spain. Hospital Universitari Vall d'Hebron, Barcelona, Spain. Vall d'Hebron Barcelona Hospital Campus |
| dc.subject.none.fl_str_mv |
Anèmia hemolítica - Aspectes genètics Eritròcits - Fisiologia patològica Membranes cel·lulars - Permeabilitat DISEASES::Hemic and Lymphatic Diseases::Hematologic Diseases::Anemia::Anemia, Hemolytic::Anemia, Hemolytic, Congenital ANATOMY::Cells::Blood Cells::Erythrocytes Other subheadings::Other subheadings::Other subheadings::/physiopathology PHENOMENA AND PROCESSES::Metabolism::Biological Transport::Cell Membrane Permeability ENFERMEDADES::enfermedades hematológicas y linfáticas::enfermedades hematológicas::anemia::anemia hemolítica::anemia hemolítica congénita ANATOMÍA::células::células sanguíneas::eritrocitos Otros calificadores::Otros calificadores::Otros calificadores::/fisiopatología FENÓMENOS Y PROCESOS::metabolismo::transporte biológico::permeabilidad de la membrana celular |
| topic |
Anèmia hemolítica - Aspectes genètics Eritròcits - Fisiologia patològica Membranes cel·lulars - Permeabilitat DISEASES::Hemic and Lymphatic Diseases::Hematologic Diseases::Anemia::Anemia, Hemolytic::Anemia, Hemolytic, Congenital ANATOMY::Cells::Blood Cells::Erythrocytes Other subheadings::Other subheadings::Other subheadings::/physiopathology PHENOMENA AND PROCESSES::Metabolism::Biological Transport::Cell Membrane Permeability ENFERMEDADES::enfermedades hematológicas y linfáticas::enfermedades hematológicas::anemia::anemia hemolítica::anemia hemolítica congénita ANATOMÍA::células::células sanguíneas::eritrocitos Otros calificadores::Otros calificadores::Otros calificadores::/fisiopatología FENÓMENOS Y PROCESOS::metabolismo::transporte biológico::permeabilidad de la membrana celular |
| description |
Electrophysiology; Haemolytic anemia; Hereditary spherocytosis |
| publishDate |
2019 |
| dc.date.none.fl_str_mv |
2019 2019 2019 |
| dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
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article |
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publishedVersion |
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https://hdl.handle.net/11351/4154 http://hdl.handle.net/11351/4154 |
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https://hdl.handle.net/11351/4154 http://hdl.handle.net/11351/4154 |
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Inglés |
| language_invalid_str_mv |
Inglés |
| dc.relation.none.fl_str_mv |
Frontiers in Physiology;10 https://www.frontiersin.org/articles/10.3389/fphys.2019.00386/full |
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Attribution-NonCommercial-NoDerivatives 4.0 International http://creativecommons.org/licenses/by-nc-nd/4.0/ info:eu-repo/semantics/openAccess |
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Attribution-NonCommercial-NoDerivatives 4.0 International http://creativecommons.org/licenses/by-nc-nd/4.0/ |
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openAccess |
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application/pdf |
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Frontiers Media |
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Frontiers Media |
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Scientia reponame:Recercat. Dipósit de la Recerca de Catalunya instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya) |
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Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya) |
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Recercat. Dipósit de la Recerca de Catalunya |
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Recercat. Dipósit de la Recerca de Catalunya |
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1869410131596279808 |
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Red Blood Cell Membrane Conductance in Hereditary Haemolytic AnaemiasPetkova-Kirova, PolinaHertz, LauraDanielczok, JensHuisjes, RickMakhro, AsyaBogdanova, AnnaMañu Pereira, M MarAnèmia hemolítica - Aspectes genèticsEritròcits - Fisiologia patològicaMembranes cel·lulars - PermeabilitatDISEASES::Hemic and Lymphatic Diseases::Hematologic Diseases::Anemia::Anemia, Hemolytic::Anemia, Hemolytic, CongenitalANATOMY::Cells::Blood Cells::ErythrocytesOther subheadings::Other subheadings::Other subheadings::/physiopathologyPHENOMENA AND PROCESSES::Metabolism::Biological Transport::Cell Membrane PermeabilityENFERMEDADES::enfermedades hematológicas y linfáticas::enfermedades hematológicas::anemia::anemia hemolítica::anemia hemolítica congénitaANATOMÍA::células::células sanguíneas::eritrocitosOtros calificadores::Otros calificadores::Otros calificadores::/fisiopatologíaFENÓMENOS Y PROCESOS::metabolismo::transporte biológico::permeabilidad de la membrana celularElectrophysiology; Haemolytic anemia; Hereditary spherocytosisElectrofisiologia; Anemia hemolítica; Esferocitosi hereditariaElectrofisiologia; Anèmia hemolítica; Esferocitosi hereditàriaCongenital haemolytic anaemias are inherited disorders caused by red blood cell membrane and cytoskeletal protein defects, deviant hemoglobin synthesis and metabolic enzyme deficiencies. In many cases, although the causing mutation might be known, the pathophysiology and the connection between the particular mutation and the symptoms of the disease are not completely understood. Thus effective treatment is lagging behind. As in many cases abnormal red blood cell cation content and cation leaks go along with the disease, by direct electrophysiological measurements of the general conductance of red blood cells, we aimed to assess if changes in the membrane conductance could be a possible cause. We recorded whole-cell currents from 29 patients with different types of congenital haemolytic anaemias: 14 with hereditary spherocytosis due to mutations in α-spectrin, β-spectrin, ankyrin and band 3 protein; 6 patients with hereditary xerocytosis due to mutations in Piezo1; 6 patients with enzymatic disorders (3 patients with glucose-6-phosphate dehydrogenase deficiency, 1 patient with pyruvate kinase deficiency, 1 patient with glutamate-cysteine ligase deficiency and 1 patient with glutathione reductase deficiency), 1 patient with β-thalassemia and 2 patients, carriers of several mutations and a complex genotype. While the patients with β-thalassemia and metabolic enzyme deficiencies showed no changes in their membrane conductance, the patients with hereditary spherocytosis and hereditary xerocytosis showed largely variable results depending on the underlying mutation.Frontiers MediaInstitut Català de la Salut[Petkova-Kirova P] Institute of Molecular Cell Biology, Saarland University, Homburg, Germany. [Hertz L] Theoretical Medicine and Biosciences, Saarland University, Homburg, Germany. Experimental Physics, Saarland University, Saarbrücken, Germany. [Danielczok J] Theoretical Medicine and Biosciences, Saarland University, Homburg, Germany. [Huisjes R] Department of Clinical Chemistry & Haematology, University Medical Center Utrecht, Utrecht, Netherlands. [Makhro A, Bogdanova A] Red Blood Cell Research Group, Institute of Veterinary Physiology, Vetsuisse Faculty, Zurich Center for Integrative Human Physiology (ZIHP), University of Zürich, Zurich, Switzerland. [Mañú-Pereira MDM] Vall d’Hebron Institut de Recerca, Barcelona, Spain. Hospital Universitari Vall d'Hebron, Barcelona, Spain.Vall d'Hebron Barcelona Hospital Campus201920192019info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/11351/4154http://hdl.handle.net/11351/4154Scientiareponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésFrontiers in Physiology;10https://www.frontiersin.org/articles/10.3389/fphys.2019.00386/fullAttribution-NonCommercial-NoDerivatives 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessoai:recercat.cat:11351/41542026-05-29T05:05:01Z |
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15.228081 |