Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

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Query: EC:3.5.4.4 (adenosine deaminase)
5,136 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The human lymphoblast line WI-L2 is subject to growth inhibition by a combination of the adenosine deaminase (ADA; adenosine aminohydrolase, EC 3.5.4.4.) inhibitor erythro-9-(2-hydroxy-3-nonyl)adenine (EHNA) and adenosine. Although adenosine-induced pyrimidine starvation appears to contribute to this effect, uridine only partially reverses adenosine toxicity in WI-L2 and not at all in strain 107, an adenosine kinase-(ATP:adenosine 5'-phosphotransferase, EC 2.7.1.20) deficient derivative of WI-L2. Treatment of both cell lines with EHNA and adenosine leads to striking elevations in intracellular S-adenosyl-L-homocysteine (AdoHcy), a potent inhibitor of S-adenosyl-L-methionine (AdoMet)-dependent methylation reactions. The methylation in vivo of both DNA and RNA is inhibited by concentrations of EHNA and adenosine that elevate intracellular AdoHcy. Addition of 100 muM L-homocysteine thiolactone to cells treated with EHNA and adenosine enhances adenosine toxicity and further elevates AdoHcy to levels approximately 60-fold higher than those obtained in the absence of this amino acid, presumably by combining with adenosine to form AdoHcy in a reaction catalyzed by S-adenosylhomocysteine hydrolase (EC 3.3.1.1). In the adenosine kinase-deficient strain 107, a combination of ADA inhibition and L-homocysteine thiolactone markedly increases intracellular AdoHcy and inhibits growth even in the absence of exogenous adenosine. These results demonstrate a form of toxicity from endogenously produced adenosine and support the view that AdoHcy, by inhibiting methylation, is a mediator of uridine-resistant adenosine toxicity in these human lymphoblast lines. Furthermore, they suggest that AdoHcy may play a role in the pathogenesis of the severe combined immunodeficiency disease found in most children with heritable ADA deficiency.
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PMID:S-adenosylhomocysteine toxicity in normal and adenosine kinase-deficient lymphoblasts of human origin. 22 26

Methods for measuring enzymatic activity of adenosine deaminase from human erythrocytes were examined and compared with each other. Determination of ADA by the method in which adenosine is converted into inosine with uric acid as the final product by the action of nucleoside phosphorylase and xanthine oxidase appears to yield the most reliable results. In the recommended assay saponin is used for lysis of erythrocytes when testing adenosine deaminase activity in red blood cells. Storage of erythrocyte samples is optimal at +4 degrees C; storage at room temperature or at -20 degrees C leads to loss of adenosine deaminase activity.
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PMID:Quantitative measurement of adenosine deaminase from human erythrocytes. 24 May 21

Two human choriocarcinoma cell lines were shown to be deficient in adenosine deaminase (ADA; adenosine aminohydrolase, EC 3.5.4.4) such that they did not produce bands on starch gels after electrophoresis and histochemical staining. Radiometric assay indicated that their ADA specific activity was approximately 2% that of HeLa (human) cell controls. Subclone analysis of one of the lines indicated that this deficiency was representative of individual cells of the line. After fusion of these cells with mouse fibroblasts having high ADA activity, most independently isolated hybrid clones expressed one of two, or both, additional (to the mouse) bands of ADA activity after electrophoresis. The expression of these extra bands in hybrids was dependent upon actual fusion. The phenomenon was observed in 30 of 45 independently derived hybrid clones from four different fusion experiments involving two different parental lines from each species. The pattern of appearance of the extra bands in independent hybrid clones and the tendency of a hybrid clone to lose one of the extra bands through subsequent passages suggests that the bands were the products of human genetic material. The extra bands electrophoretically comigrated with human ADA 1 and 2 from human ADA-1-2 heterozygotes and the faster-migrating of the two extra bands comigrated with human ADA 1 from HeLa cells. Therefore, we suggest that the bands appearing in hybrids are the products of the 1 and 2 alleles of the human ADA locus. The human cells used for fusion were deficient in ADA activity but contained the genetic information for ADA 1 and 2. Fusion with mouse cells having ADA activity resulted in the activation of both human gene products coded for on separate homologous chromosomes. We conclude that the human ADA locus is under manipulatable genetic regulation.
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PMID:Expression of human adenosine deaminase after fusion of adenosine deaminase-deficient cells with mouse fibroblasts. 27 55

Kadazans, the largest indigenous group in Sabah, northern Borneo, were surveyed for glyoxalase I, phosphoglucomutase I, red cell acid phosphatase, esterase D, adenosine deaminase, soluble glutamate pyruvate transaminase, soluble glutamate oxaloacetate transaminase, 6-phosphogluconate dehydrogenase, uridine monophosphate kinase, adenylate kinase, peptidase B and D, superoxide dismutase, C5, group specific component, haptoglobin and transferrin. Kadazans were found to be polymorphic for GLO I, PGM I, RCAP, esterase D, ADA, s-Gpt, 6PGD, UMPK, Gc, C5, haptoglobin and peptidase B. Rare variants were found for transferrin and peptidase D. No variant was found for s-Got, SOD and AK.
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PMID:Biochemical genetic markers in the Kadazans of Sabah, Malaysia. 28 26

Congenital immunologic deficiencies and congenital dwarfisms represent two seemingly unrelated disorders. Here is reported the tenth case of a definite congenital and fatal syndrome associating a severe combined immunologic deficiency and a micromelic dwarfism, affecting mainly the proximal limbs, as well as an ichtyosiform and furrowed skin disorder. Although the adenosine deaminase activity has not been determined in this patient, a 4-month old boy, this syndrome seems to be different from cases of ADA negative SCID. The associated impairment of growth and immunity emphasizes once more the close genetic linkage existing between the development of the skeleton and the lymphoid tissue.
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PMID:[A fatal syndrome associating a micromelic dwarfism, an ichthyosiform skin disorder and a severe combined immunologic deficiency. Report of a case and survey of the literature (author's transl)]. 31 67

A radiochromatographic method is described for measuring adenosine deaminase and purine nucleoside phosphorylase activity in cells from human peripheral blood. The respective substrates, [8-14C]adenosine or [8-14C]inosine, are converted either to inosine and hypoxanthine or hypoxanthine, respectively. A single simple and rapid chromatographic procedure is used to isolate the products of both reactions. The mean normal activity (nmol h-1mg-1) of ADA for erythrocytes is 63 +/- 24 (+/- 1 S.D.) for leukocytes, 750 +/- 280 and for lymphocytes, 2105 +/- 1170. Corresponding activities for purine nucleoside phosphorylase are 1850 +/- 490, 3665 +/- 1170 and 5890 +/- 2030. With the described methods a further patient with severe combined immuno-deficiency and adenosine deaminase deficiency has been identified.
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PMID:A micromethod for determining adenosine deaminase and purine nucleoside phosphorylase activity in cells from human peripheral blood. 41 22

812 West Malaysian Orang Asli belonging to four ethnic groups were surveyed for adenosine deaminase (ADA; EC 3.5.4.4) using starch gel electrophoresis. Only the common ADA1 and ADA2 alleles were found, with the frequencies of the latter being 0.025, 0.103, 0.115 and 0.028 in the Semai, Semelai, Temuan, and Jakun groups, respectively. A new 'breeding genetic distance' was applied to these gene frequencies and the Semelai and Temuan were found to be more closely related to each other, and to have considerably more evolutionary flexibility on this scale of 'micro-evolution' than the other two groups. The Semai and Jakun were more similar to each other on the basis of these ADA gene frequencies.
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PMID:Adenosine deaminase polymorphism among the Semai, Temuan, Semelai, and Jakun groups of West Malaysian Orang Asli. 61 19

The analysis of progress curves using the integrated rate equation was applied to the adenosine deaminase-catalyzed conversion of adenosine to inosine. Adenosine deaminase was purified from human red blood cells of phenotypes ADA 1, ADA 2, and ADA 2-1. For all three types, no measurable product inhibition by inosine was observed. These results do not confirm the hypothesis that inosine accumulation in purine nucleoside phosphorylase deficiency causes adenosine deaminase inhibition, resulting in a common mechanism for the immune defects related to these two enzyme deficiencies.
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PMID:Use of the integrated steady state rate equation to investigate product inhibition of human red cell adenosine deaminase and its relevance to immune dysfunction. 61 71

Blood and serum from 17 Macaca mulatta were analysed for haptoglobins, transferrins, 6-phosphogluconate dehydrogenase, adenylate kinase, adenosine deaminase, phosphoglucomutase, acid phosphatase, glucose-6-phosphate dehydrogenase and phosphohexose isomerase. Compared to the human pattern, the AcPh and the ADA components of macaques are fast moving; AK, PGM, 6-PGD and G-6-PG have almost uniform and similar electrophoretic mobilities; and the Hp, Tf and PHI show differential mobilities. All these macaques possess similar karyotypes.
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PMID:Genetic variations in primates. Red cell enzymes and serum proteins in Macaca mulatta. 80 45

A significant association is described between genes of the erythrocyte acid phosphatase (ACP1B), erythrocyte adenosine deaminase (ADA2) and plasma haptoglobin (Hp2) systems. Most of the heterogeneity is shown to reside in the ADA2-Hp2 association and in the ACP1B-Hp2 association among persons of type ADA 1.
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PMID:A Ternary-associating system of genes. 86 57


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