Neurochem Res
June 2012
Twenty-five years ago the author proposed new ideas of glycoprotein (GPs) and glycosphingolipid (GSLs) functions at the cell membrane. The GPs, apart from their glycan carrying capacity, were assumed to have specific, protein associated, functions. In contrast, GSLs such as those of globo and neolacto/lacto series, were considered to be energetically cheap membrane packing substances, filling in membrane spaces not covered with functional GPs.
View Article and Find Full Text PDFThe thalassamias are inherited disorders resulting from unbalanced synthesis of normal polypeptide chains of haemoglobins: of alpha chains in alpha-thalassemia and of beta chains in beta-thalassemia. In Poland, in contrast to beta-thalassaemia, there is no routine diagnostic approach to alpha-thalassaemia. In the present study, for detection of alpha-thalassemia we employed Multiplex-PCR (mPCR) and Multiplex Ligation-dependent Probe Amplification (MPLA).
View Article and Find Full Text PDFUnlabelled: A patient of 31 years of age with an atypical overhydrated hereditary stomatocytosis is described. The diagnosis was established on the basis of a markedly increased red cell volume with low MCHC, high osmotic fragility of red cells, but increased binding of eosin-5-maleimide (EMA) to red cells, presence of stomatospherocytes and large spherocytes in blood and a high sodium and low potassium concentration in erythrocytes. A double band 7 was found by SDS-PAGE of the erythrocyte membrane, but even when only one them was taken into account, the level of stomatin was normal.
View Article and Find Full Text PDFA chronic active Epstein-Barr virus infection (CAEBV) following infectious mononucleosis in a 58 years old woman is reported. The disease lasted for one year, and in spite of an intensive search for its cause, was diagnosed only at the 8th months since its onset. A low frequency of CAEBV in caucasians and patient's age were likely responsible for the belated diagnosis.
View Article and Find Full Text PDFWe analyzed erythrocyte glycoconjugates in two families with congenital dyserythropoietic anemia type II (CDA-II): family 2 with the typical localization of the disease gene to chromosome 20q11.2 and family 1 in which this localization was excluded. Despite the different genetics, the erythrocyte glycoconjugate abnormalities in the two families were identical suggesting a complex inheritance of CDA-II.
View Article and Find Full Text PDFHuman fibrinogen (TF) has been separated into two fractions: F1 - homodimers with respect to the gamma chain, and F2 - heterodimers composed of gammaA and gamma' polypeptides. Their rouleaux-inducing properties were as follows: (1) both, at the same concentration of 0.8%, were less effective than TF; (2) F1 produced larger rouleaux even under static conditions of a hemocytometer where F2 was silent; (3) F2 induced the process when a suspension was gently sheared between microscopic slides.
View Article and Find Full Text PDFUnlabelled: The aim of the present investigation was to verify a common view that thalassemia in Poland is a very rare disease.
Material And Methods: 600 patients (270 male and 330 female) aged 2-85 years with microcytosis and no evidence of iron deficiency were examined for beta-thalassemia. Hemoglobin A2 and hemoglobin F and bilirubin were evaluated.
Introduction: Patients with severe hemophilia A often develop inhibitors (antibodies) against transfused factor VIII.
Material/methods: One hundred thirteen Polish patients with severe hemophilia A, who had been treated on demand with cryoprecipitate until 1992 and exclusively with factor VIII concentrates after 1995, were examined for intron 22 inversion by Southern blotting and the presence and magnitude of inhibitor activity in blood as determined by the Bethesda assay. The patients' ages ranged 4--67 years (mean: 33.
Leukemic cells were used as experimental material to demonstrate changes in the content of GSLs during the development and maturation of neutrophils. The most abundant cellular GSL is LacCer. An elevation in the LacCer level occurs twice during the maturation process: initially, on formation of azurophil granules, and subsequently, (a more significant rise) on formation of specific granules.
View Article and Find Full Text PDFSera of patients with infectious mononucleosis contain heterophile anti-Paul- Bunnell (PB) antibodies to erythrocytes of numerous mammalian species. Evidence is presented that the corresponding antigen of bovine erythrocytes is not, as previously described, a single molecule, but a series of glycoproteins with glycans terminated with N-glycolylneuraminic acid (Neu5Gc). The latter compound should be an important part of the PB epitope because, in agreement with the results of others, we found that desialylation of the PB antigen abolishes almost completely its activity.
View Article and Find Full Text PDFLacCer/CDw17 is the most abundant GSL in neutrophils. The cell-surface and intracellular presence of LacCer was determined quantitatively using anti-CDw17 mAbs in a flow cytometry assay. The quantified alterations in the level of CDw17 antigen expression are consistent with alterations in LacCer content, determined chemically.
View Article and Find Full Text PDFA description is provided of the clinical presentation in an infant of the recently described congenital disorder of glycosylation type Ig, and the changes affecting glycosylation of red cell membrane band 3, the anion exchanger. It has been shown that the condition stems from a homozygous mutation within the human ortholog of yeast ALG12 gene, which encodes a dolichol-P-mannose:Man7GlcNAc2-PP-dolichol alpha,1-6 mannosyltransferase of the endoplasmic reticulum. The clinical phenotype included prominent central and peripheral manifestations in the CNS.
View Article and Find Full Text PDFBackground And Objectives: Congenital dyserythropoietic anemia (CDA) type I, II, and III, is associated with abnormalities of erythrocyte membrane glycoconjugates that are most pronounced in type II CDA or hereditary erythroblastic multinuclearity with a positive acidified-serum test (HEMPAS). The abnormalities consist in hypoglycosylation of polylactoaminoglycans linked to proteins (as in band 3 glycoprotein) and ceramides (known under the name of polyglycosylceramides) as well as in accumulation of some oligoglycosylceramides: lactotriaosylceramide, neolactotetraosylceramide, and sometimes globotetraosylceramide. Glycophorin A is partially unglycosylated with respect to O-linked glycans.
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