Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.1.3.1 (alkaline phosphatase)
 47,916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Myeloproliferative disease of childhood is frequently associated with chromosomal anomalies, usually of the C group. Clinical features are similar to those of the juvenile type of chronic myeloid leukemia. A child with this disease is described. Marked myeloid proliferation, anemia, thrombocytopenia and hepatosplenomegaly were present; leukocyte alkaline phosphatase and fetal hemoglobin were moderately elevated. Chromosome analysis of bone marrow cells revealed a mosaicism 47,XX,+21/46,XX. Down's syndrome was ruled out by the child's normal phenotype and dermatoglyphic analysis. The cytogenetic finding is probably evidence for the clonal origin of the trisomy 21 cell line.
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PMID:Myeloproliferative disease of childhood associated with a trisomy 21 clone. 11 7

Levels of serum alkaline phosphatase activity were determined in a sample of 110 individuals affected by Down's syndrome, and in a sample of 299 healthy persons, males and females. The age of both populations was from 6 to 28. They were located in Madrid, but hailing from several Spanish provinces. Levels are higher for all age groups than those in the control population. Differences between both populations are statistically significant in the following age groups: from 6 to 8, 11 to 13 and 14 to 16. Other studies on alkaline phosphatase in various tissues were examined and the possible significance of this finding is discussed.
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PMID:[Alakaline phosphatase levels in down's syndrome (author's transl)]. 13 2

Neutrophil function was studied in 25 patients with Down's syndrome at a mental subnormality hospital and compared with 26 normal controls. In vitro killing of Candida albicans was significantly lower in the Down's group, but there was no difference in the percentage of cells actively involved in phagocytosis or in the phagocytic index. The spontaneous nitroblue tetrazolium reduction was increased in 10 patients, but no abnormality of peroxidase activity or leucocyte alkaline phosphatase activity was found.
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PMID:White cell function in Down's syndrome. 13 16

Treatment of cultured fibroblasts from patients with unbalanced chromosomal aberrations with a mixture of isoproterenol, theophylline and ascorbic acid resulted after 48 hours in an at least three-fold increase of alkaline phosphatase activity on a per cell basis, whereas cells from normal healthy individuals did not show this dramatic response. Cells were studied from patients with trisomy 21 (14 cases), trisomy 18 (3 cases), trisomy 13 (1 case), pentasomy X (1 case), Turner syndrome (2 cases), and Klinefelter syndrome (1 case), and no exception was noted. The mechanism of this phenomenon is not clear, but it is speculated that increased cyclic-AMP levels caused by the action of isoproterenol on adenylcyclase may account for excessive reactions of unbalanced cells as compared to normal cells. This simple biochemical diagnostic procedure might become useful in screening programs for unbalanced chromosomal abberations.
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PMID:High alkaline phosphatase activity in isoproterenol stimulated fibroblast cultures from patients with numerically unbalanced chromosomal aberrations. 46 48

The serum levels of the active Vitamin D metabolites 25-hydroxyvitamin D[25(OH)D], 1,25-dihydroxyvitamin D[1,25(OH)2D] and 24,25 dihydroxyvitamin D [24,25(OH)2D], were studied in 21 children with Down's syndrome (DS) in Cantabria, a northern region of Spain, located at 44 degrees N latitude. Serum calcium, magnesium, phosphate, alkaline phosphatase, parathormone and osteocalcine were also determined. In the DS group, the average values of the three Vitamin D metabolites were comparable to those of an age-matched group both in winter and summer times. No child with DS showed values below the normal range, either in Vitamin D metabolites, or in the other parameters of calcium metabolism. The normal increment of 25(OH)D and 24,25(OH)2 values from March to October was not observed in five children. This anomaly was corrected in three, after adequate rules of sun exposure during summer time were followed. In the other two, the 25(OH)D levels were high throughout the study. This investigation shows that children with DS do not require Vitamin D prescription when appropriate periods of sunlight exposure are provided.
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PMID:Vitamin D status in children with Down's syndrome. 153 19

Biochemical, cytochemical characteristics and electron microscopy subcellular distribution of neutrophil alkaline phosphatase (NAP) were analysed in blood and/or smear samples from 39 trisomy 21 patients (Down's syndrome) aged 11.5-18 years (mean 15.5 years) and 55 normal subjects aged 12-20.5 years (mean 17 years). All patients were karyotyped. NAP cytochemical procedures were carried out on all subjects; biochemical NAP determinations were made in 10 patients and 20 controls; ultrastructural electron microscopy of AP was performed in three patients and four normal subjects. Neutrophil alkaline phosphatase from patients with trisomy 21 displayed the following changes: (1) a significant increase of enzyme activity, (2) a high thermal lability of enzyme. Electron microscope morphology exhibited large deposits of NAP reaction product associated with the plasma membrane and intracellular main organelles, like phosphasomes. The NAP biochemical and cytochemical characteristics suggest that trisomy 21 neutrophils contain a non-specific AP isoenzyme, closely related to the early placental form.
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PMID:Difference in activity properties and subcellular distribution of neutrophil alkaline phosphatase between normal individuals and patients with trisomy 21. 182 52

Some investigators have described the presence in Alzheimer's disease brain extracts of several abnormal forms of the microtubule-associated protein tau, based on their unusual mobility in SDS/PAGE. It has been proposed that these abnormal forms of tau may be the result of aberrant tau phosphorylation. In this study we show that tau in extracts of Alzheimer's disease brain can be separated into two fractions based upon its solubility (100,000 g x 1 h supernatant) in non-denaturing conditions (100 mM-Mes, pH 6.5, 0.5 mM-MgCl2, 1 mM-EGTA and 1 M-NaCl). The tau isoforms with decreased mobility in SDS/PAGE are predominantly in an insoluble fraction, whereas the soluble tau is indistinguishable by its mobility in SDS/PAGE from tau in soluble extracts of control brain. Insoluble tau displaying abnormal mobility on SDS/PAGE was only found in Alzheimer and adult Down's syndrome brains and was absent from the brains of age-matched controls and from foetal and infant Down's syndrome brains. There was a good correlation between the presence of insoluble tau in brain extracts and the abundance of neurofibrillary tangles and senile neuritic plaques. The monoclonal antibody Tau. 1 stained insoluble tau on Western blots only after treatment of the nitrocellulose transfers with alkaline phosphatase, implying that this insoluble tau is in a particular state of phosphorylation. We conclude that, in Alzheimer's disease, a fraction of tau has a modified phosphorylation state and a decreased solubility; these modifications may precede formation of the neurofibrillary tangles characteristic of Alzheimer's disease and Down's syndrome in adults.
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PMID:Tau in Alzheimer's disease and Down's syndrome is insoluble and abnormally phosphorylated. 182 35

An electrophoretically slow-moving alkaline phosphatase was found in the serum of a 17-year-old patient with Down's syndrome. Immunological and biochemical studies suggested that this abnormal enzyme pattern consisted of a complex of liver/bone isoenzyme with kappa-type immunoglobulins A and G.
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PMID:About the presence of a circulating anti-alkaline phosphatase antibody in a trisomy 21 patient's serum. 184 36

Neutrophil alkaline phosphatase (NAP) from 12 mothers of normal children was investigated and the results compared to those of 7 mothers with trisomy 21 offsprings, in an attempt to determine a parental molecular change in this chromosomal abnormality. The biochemical properties of the enzyme were analyzed by the procedures of isoenzyme characterization, i.e. enzyme assays, thermostability, inhibition patterns and slab gel electrophoresis. Immunological properties were determined on 5 samples from normal mothers and on the same sample number of mothers with affected children. In these latter NAP showed characteristics that were to some extent different from the ones of normal controls. The following changes were observed: highly significant loading of membrane and nucleus pellets in NAP activity, poor effect of inhibitors on thermostable component and immunodepletion measured by a significant decrease of the normal affinity for antiliver and antiplacental alkaline phosphatase antisera. These findings are discussed in the light of our knowledge of alkaline phosphatase isoenzymes.
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PMID:An enzymatic marker in mothers of trisomy 21 children: neutrophil alkaline phosphatase. 245 88

Infants with Down's syndrome have an increased incidence of acute nonlymphocytic leukemia (ANLL). They are also at risk of developing a transient myeloproliferative syndrome indistinguishable from ANLL except by its eventual clinical recovery. The authors studied five infants with Down's syndrome and leukocytosis with circulating blast forms in their peripheral blood with in vitro cultures of bone marrow colony forming units-granulocyte macrophage (CFU-GM), cytogenetics and peripheral blood neutrophil alkaline phosphatase (NAP) score. Three children developed ANLL, the other two had a transient myeloproliferative syndrome. The in vitro assay for CFU-GM showed abnormal results consistent with ANLL in the children who develop this disorder. Serial cytogenetic studies disclosed the appearance of an abnormal clone in one patient. A combination of clinical parameter in vitro colony studies and cytogenetic studies in these children was helpful in distinguishing ANLL from a myeloproliferative disorder. The NAP scores were not helpful.
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PMID:Infants with Down's syndrome. Use of cytogenetic studies and in vitro colony assay for granulocyte progenitor to distinguish acute nonlymphocytic leukemia from a transient myeloproliferative disorder. 295 84


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