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Biomedical subjects

E Beutler

Publications and source records attributed to E Beutler.

At least 343 records · Page 19Linked to original sources
PubMed1981

The effect of alpha-thalassemia on the expression of the beta-thalassemia/HPFH heterozygote in a black family.

A 2-yr-old black girl presented with a thalassemic clinical picture and was found to have nearly 100% fetal hemoglobin in her red cells. Pedigree analysis indicated that she was a heterozygote for the hereditary persistence of fetal hemoglobin gene and for a beta O-thalassemia gene. A brother, who also had nearly 100% fetal hemoglobin in his red cells, manifested, in contrast to his sister, no anemia and only minimal splenomegaly. Examination of the family's alpha-globin loci using the restriction endonuclease Eco Rl demonstrated that the brother had a single alpha-locus deletion that he had inherited from his mother. The mild clinical manifestations of this boy are consistent with the often expressed view that excess alpha chains may contribute significantly to the hematologic manifestation of beta-thalassemia.

Black People↗
PubMed1981

Hemoglobin Great Lakes (beta 68 [E12] leucine replaced by histidine): a new high-affinity hemoglobin.

Hemoglobin Great Lakes, beta 68 (E12) Leu replaced by His is a new high oxygen affinity hemoglobin variant discovered in a 29-yr-old female having numerous hospitalizations for thrombophlebitis associated with mild erythrocytosis. The mutant hemoglobin has normal stability and normal electrophoretic mobility, but increased oxygen affinity (P-50 16.1 mm Hg at 37 degrees C, pH 7.4) and reduced cooperativity. The abnormal beta-chain could be separated on globin chain chromatography on carboxymethyl/cellulose in spite of the normal electrophoretic mobility of the intact hemoglobin. The leucyl residue at beta 68th position (E12) is in the middle of E-helix, which is part of the heme pocket and next to the valine (E11), which is the heme binding site. The substitution of proline for leucine in hemoglobin Mizuho resulted in the distortion of tertiary structure of the beta-chains and lead to a serious instability of hemoglobin molecule. However, the substitution of this residue by histidine in hemoglobin Great Lakes is not associated with hemoglobin instability.

Adult↗
PubMed1981

Ferritin in cultured fibroblasts from patients with idiopathic hemochromatosis.

Cultured skin fibroblasts from three unrelated patients with idiopathic hemochromatosis and two normal controls were cultured in media containing iron concentrations ranging from 383 to 963 ng/ml. The amount of ferritin accumulating in fibroblasts was related to the iron concentrations, but there was no significant difference in the fibroblasts of patients with hemochromatosis and the normal controls.

Cells, Cultured↗
PubMed1980

Simple and rapid purification of inside-out vesicles from human erythrocytes.

The preparation of inside-out vesicles from human erythrocytes requires their separation from contaminating right-side-out vesicles. We have taken advantage of the fact that there are no glycoproteins on the internal side of the erythrocyte membrane; therefore, inside-out vesicles do not interact with the lectin, concanavalin A, while right-side-out vesicles do interact. A concanavalin A-cellulose affinity matrix has been utilized to separate easily inside-out vesicles with a purity comparable to those prepared by prolonged centrifugation.

Cell Fractionation↗
PubMed1980

Guanosine triphosphatase activity in human erythrocyte membranes.

Human red cell membranes have the capacity to hydrolyze enzymatically GTD to GDP. The reaction requires magnesium, is not appreciably affected by sodium, potassium or calcium, and is not inhibited by ouabain. Kinetic analysis suggests that there are two separate enzymes in membranes which cleave GTP, a 'high Km' GTPase and a 'low Km' GTPase. Both enzymes are also ATPases, with an approximately equal affinity for GTP and ATP. GTPase activity did not extract from the membrane with spectrin and was not inactivated by antispectrin antibody. Activity was partially destroyed by 0.5% Triton X-100. It seems probable that the low Km GTPase is the sodium- and potassium-independent ATPase of red cell membranes. The identity of the high Km enzyme is not clear.

Adenosine Triphosphatases↗
PubMed1980

Hemoglobin Pasadena,alpha 2 beta 275(E19)Leu leads to Arg. Identification by high performance liquid chromatography of a new unstable variant with increased oxygen affinity.

This report describes structural and functional characteristics of a new hemoglobin variant, Hb Pasadena [beta 75(E19)Leu leads to Arg] and illustrates the use of high performance liquid chromatography in the analysis of the substitution. As a consequence of this substitution, there is compensated hemolysis, instability, increased oxygen affinity, and reduced cooperativily. However, the health of the individual is hardly affected.

Arginine↗
PubMed1980

Bone-marrow ablation and allogeneic marrow transplantation in acute leukemia.

Thirty-three patients with acute leukemia (15 with lymphoblastic leukemia and 18 with myeloblastic leukemia) were entered into a program of high-dose radiochemotherapy followed by allogeneic bone-marrow transplantation. These patients were in various clinical stages of disease. Of 10 in complete hematologic remission at the time of transplantation, seven were alive without maintenance therapy at the time of evaluation, eight to 35 months after grafting; one was in relapse. Of 11 who received transplants during partial remission, six were in remission without further treatment eight to 33 months after transplantation. In 12 the disease was refractory to chemotherapy when preparation for transplantation was started, and only one of them was alive and free of disease after 10 months. Recurrent leukemia, graft-versus-host disease, viral pneumonia, and early therapy-related toxicity were the major causes of failure. High-dose chemotherapy and total-body irradiation followed by allogeneic marrow transplantation performed during complete or partial remission can produce long-term remission of acute leukemia.

Acute Disease↗
PubMed1980

Glutathione transport by inside-out vesicles from human erythrocytes.

Purified inside-out vesicles from human erythrocytes were used to investigate the active transport of oxidized glutathione (GSSG). Incubation of vesicles and GSSG in the presence of ATP resulted in the transport of GSSG into the vesicles. When vesicles were incubated with reduced glutathione (GSH), no transport was observed. At GSSG concentrations of less than 5 mM, transport was linear up to 4 hr at 37 degrees C. A Lineweaver-Burk plot of the transport rate as a function of GSSG concentration was biphasic and gave apparent Km values of 0.1 and 7.1 mM. The Km for ATP . Mg in this transport process was 0.63 mM at a GSSG concentration of 20 microM and 1.25 mM at a GSSG concentration of 5 mM. The transport rate at low GSSG concentrations was inhibited by CTP or UTP, which acted as competitive inhibitors of ATP; Ki=0.51 mM. This inhibition may account for the high erythrocyte GSH levels observed in pyrimidine-5'-nucleotidase deficiency, a disorder in which erythrocytic levels of CTP and UTP are elevated.

Biological Transport, Active↗
PubMed1980

A simplified method for studies of haemoglobin biosynthesis.

A simplified method for studies of haemoglobin chain biosynthesis using 35S-methionine as the labeled amino acid and Cellogel electrophoresis for globin chain separation is described. This technique simplifies the procedure globin preparation, improves the electrophoretic separation of globin chains and may be applied to samples with normal reticulocyte counts. As many as 20 samples can be prepared simultaneously and 10 samples can be subjected to electrophoretic separation at one time. The method was fund to yield the expected synthetic ratios and to be highly reproducible when applied to normal and abnormal samples from peripheral blood or bone marrow.

Anemia, Sickle Cell↗
PubMed1980

Developmental changes in glucose transport of guinea pig erythrocytes.

The developmental changes in the capacity for D-glucose transport of guinea pig erythrocyte membranes were compared to alterations in the electrophoretic pattern of erythrocyte membrane components. Guinea pig erythrocytes lose their D-glucose carrier functions during development. Good correlation was observed between the loss of glucose uptake and apparent decrease of the zone 4.5 of Coomassie Blue-stained membrane proteins on electrophoresis. Reconstitution of membrane preparations in liposomes resulted in a parallel change in the D-glucose uptake and D-glucose penetration of intact erythrocytes. This suggests that the decrease of D-glucose transport capacity during development is caused by the loss of one or more protein components from the erythrocyte membranes.

Age Factors↗