Red blood cell membrane conductance in hereditary haemolytic anaemias
Petkova-Kirova, P. (Institute of Molecular Cell Biology. Saarland University)
Hertz, L. (Experimental Physics. Saarland University)
Danielczok, J. (Theoretical Medicine and Biosciences. Saarland University)
Huisjes, R. (Department of Clinical Chemistry and Haematology. University Medical Center Utrecht)
Makhro, A. (Red Blood Cell Research Group. Institute of Veterinary Physiology. Vetsuisse Faculty. Zurich Center for Integrative Human Physiology (ZIHP). University of Zürich)
Bogdanova, A. (Red Blood Cell Research Group. Institute of Veterinary Physiology. Vetsuisse Faculty. Zurich Center for Integrative Human Physiology (ZIHP). University of Zürich)
Mañú Pereira, María del Mar (Hospital Universitari Vall d'Hebron)
Vives Corrons, Juan Luís (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Van Wijk, R. (Department of Clinical Chemistry and Haematology. University Medical Center Utrecht)
Kaestner, L. (Experimental Physics. Saarland University)
Universitat Autònoma de Barcelona

Data:	2019
Resum:	Congenital 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.
Ajuts:	European Commission 602121
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Electrophysiology ; Haemolytic anemia ; Hereditary spherocytosis ; Hereditary xerocytosis ; Patch-clamp
Publicat a:	Frontiers in physiology, Vol. 10 Núm. MAR (2019) , p. 386, ISSN 1664-042X

DOI: 10.3389/fphys.2019.00386
PMID: 31040790

17 p, 1.8 MB

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Documents de recerca > Documents dels grups de recerca de la UAB > Centres i grups de recerca (producció científica) > Ciències de la salut i biociències > Institut d'Investigació en Ciencies de la Salut Germans Trias i Pujol (IGTP) > Institut de Recerca contra la Leucèmia Josep Carreras
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