Click here to close
Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly.
We suggest using a current version of Chrome,
FireFox, or Safari.
Haematologica
2010 Feb 01;952:189-98. doi: 10.3324/haematol.2009.010215.
Show Gene links
Show Anatomy links
Cryohydrocytosis: increased activity of cation carriers in red cells from a patient with a band 3 mutation.
Bogdanova A, Goede JS, Weiss E, Bogdanov N, Bennekou P, Bernhardt I, Lutz HU.
???displayArticle.abstract???
Cryohydrocytosis is an inherited dominant hemolytic anemia characterized by mutations in a transmembrane segment of the anion exchanger (band 3 protein). Transfection experiments performed in Xenopus oocytes suggested that these mutations may convert the anion exchanger into a non-selective cation channel. The present study was performed to characterize so far unexplored ion transport pathways that may render erythrocytes of a single cryohydrocytosis patient cation-leaky.Cold-induced changes in cell volume were monitored using ektacytometry and density gradient centrifugation. Kinetics, temperature and inhibitor-dependence of the cation and water movements in the cryohydrocytosis patient's erythrocytes were studied using radioactive tracers and flame photometry. Response of the membrane potential of the patient's erythrocyte membrane to the presence of ionophores and blockers of anion and cation channels was assessed.In the cold, the cryohydrocytosis patient's erythrocytes swelled in KCl-containing, but not in NaCl-containing or KNO(3)-containing media indicating that volume changes were mediated by an anion-coupled cation transporter. In NaCl-containing medium the net HOE-642-sensitive Na(+)/K(+) exchange prevailed, whereas in KCl-containing medium swelling was mediated by a chloride-dependent K(+) uptake. Unidirectional K(+) influx measurements showed that the patient's cells have abnormally high activities of the cation-proton exchanger and the K(+),Cl(-) co-transporter, which can account for the observed net movements of cations. Finally, neither chloride nor cation conductance in the patient's erythrocytes differed from that of healthy donors. Conclusions These results suggest that cross-talk between the mutated band 3 and other transporters might increase the cation permeability in cryohydrocytosis.
Agalakova,
Temperature effects on ion transport across the erythrocyte membrane of the frog Rana temporaria.
1997, Pubmed
Agalakova,
Temperature effects on ion transport across the erythrocyte membrane of the frog Rana temporaria.
1997,
Pubmed Baunbaek,
Evidence for a random entry of Ca2+ into human red cells.
2008,
Pubmed Bennekou,
Volume control in sickle cells is facilitated by the novel anion conductance inhibitor NS1652.
2000,
Pubmed Bennekou,
The effect of ATP, intracellular calcium and the anion exchange inhibitor DIDS on conductive anion fluxes across the human red cell membrane.
1988,
Pubmed Bennekou,
K+-valinomycin and chloride conductance of the human red cell membrane. Influence of the membrane protonophore carbonylcyanide m-chlorophenylhydrazone.
1984,
Pubmed Bennekou,
The human red cell voltage-regulated cation channel. The interplay with the chloride conductance, the Ca(2+)-activated K(+) channel and the Ca(2+) pump.
2003,
Pubmed Bennett,
Spectrin and ankyrin-based pathways: metazoan inventions for integrating cells into tissues.
2001,
Pubmed Bernhardt,
Effects of low ionic strength media on passive human red cell monovalent cation transport.
1991,
Pubmed Birkenmeier,
Hereditary haemolytic anaemias: unexpected sequelae of mutations in the genes for erythroid membrane skeletal proteins.
2004,
Pubmed Bruce,
Mutations in band 3 and cation leaky red cells.
2006,
Pubmed Bruce,
Hereditary stomatocytosis and cation-leaky red cells--recent developments.
2009,
Pubmed Bruce,
Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1.
2005,
Pubmed
,
Xenbase Brugnara,
Therapeutic strategies for prevention of sickle cell dehydration.
2001,
Pubmed De Franceschi,
K-CL co-transport plays an important role in normal and beta thalassemic erythropoiesis.
2007,
Pubmed Delaunay,
The hereditary stomatocytoses: genetic disorders of the red cell membrane permeability to monovalent cations.
2004,
Pubmed Ellory,
Review. Leaky Cl--HCO3- exchangers: cation fluxes via modified AE1.
2009,
Pubmed Ellory,
Abnormal permeability pathways in human red blood cells.
2007,
Pubmed Fricke,
Four new cases of stomatin-deficient hereditary stomatocytosis syndrome: association of the stomatin-deficient cryohydrocytosis variant with neurological dysfunction.
2004,
Pubmed Gore,
Four pedigrees of the cation-leaky hereditary stomatocytosis class presenting with pseudohyperkalaemia. Novel profile of temperature dependence of Na+-K+ leak in a xerocytic form.
2004,
Pubmed Gore,
Familial pseudohyperkalaemia Cardiff: a mild version of cryohydrocytosis.
2002,
Pubmed Guizouarn,
Evidence for up-regulation of the endogenous Na-K-2Cl co-transporter by molecular interactions with the anion exchanger tAE1 expressed in Xenopus oocyte.
2004,
Pubmed
,
Xenbase Guizouarn,
Point mutations involved in red cell stomatocytosis convert the electroneutral anion exchanger 1 to a nonselective cation conductance.
2007,
Pubmed
,
Xenbase Haines,
Familial pseudohyperkalaemia Chiswick: a novel congenital thermotropic variant of K and Na transport across the human red cell membrane.
2001,
Pubmed Hill,
Vestibular hair bundles control pH with (Na+, K+)/H+ exchangers NHE6 and NHE9.
2006,
Pubmed Iolascon,
Red blood cell membrane defects.
2003,
Pubmed Jarvis,
A novel stomatocytosis variant showing marked abnormalities in intracellular [Na] and [K] with minimal haemolysis.
2001,
Pubmed Jarvis,
Cold storage of 'cryohydrocytosis' red cells: the osmotic susceptibility of the cold-stored erythrocyte.
2003,
Pubmed Kaji,
Glucocorticoid-induced alterations in the sodium potassium pump of the human erythrocyte.
1981,
Pubmed Kummerow,
Variations of intracellular pH in human erythrocytes via K(+)(Na(+))/H(+) exchange under low ionic strength conditions.
2000,
Pubmed Lauf,
Erythrocyte K-Cl cotransport: properties and regulation.
1992,
Pubmed Lepke,
A study of the relationship between inhibition of anion exchange and binding to the red blood cell membrane of 4,4'-diisothiocyano stilbene-2,2'-disulfonic acid (DIDS) and its dihydro derivative (H2DIDS).
1976,
Pubmed Lew,
Ion transport pathology in the mechanism of sickle cell dehydration.
2005,
Pubmed Low,
Localization of mutations leading to altered cell shape and anion transport in the crystal structure of the cytoplasmic domain of band 3.
2001,
Pubmed Low,
Structure and function of the cytoplasmic domain of band 3: center of erythrocyte membrane-peripheral protein interactions.
1986,
Pubmed Lutz,
Density separation of human red blood cells on self forming Percoll gradients: correlation with cell age.
1992,
Pubmed Macey,
Erythrocyte membrane potentials determined by hydrogen ion distribution.
1978,
Pubmed Masereel,
An overview of inhibitors of Na(+)/H(+) exchanger.
2003,
Pubmed Muzyamba,
Effect of intracellular magnesium and oxygen tension on K+-Cl- cotransport in normal and sickle human red cells.
2006,
Pubmed Orlov,
Kinetics and peculiarities of thermal inactivation of volume-induced Na+/H+ exchange, Na+,K+,2Cl- cotransport and K+,Cl- cotransport in rat erythrocytes.
1993,
Pubmed Orlowski,
Diversity of the mammalian sodium/proton exchanger SLC9 gene family.
2004,
Pubmed Reliene,
Splenectomy prolongs in vivo survival of erythrocytes differently in spectrin/ankyrin- and band 3-deficient hereditary spherocytosis.
2002,
Pubmed Southgate,
Comparison of a colorimetric potassium method with flame photometry and ion-selective electrodes.
1991,
Pubmed Stewart,
Increased human red cell cation passive permeability below 12 degrees C.
1980,
Pubmed Weiss,
Inhibitors of the K+(Na+)/H+ exchanger of human red blood cells.
2004,
Pubmed Willardson,
Localization of the ankyrin-binding site on erythrocyte membrane protein, band 3.
1989,
Pubmed
