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:3.1.3.1 (alkaline phosphatase)
47,916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The specific activities of alpha-D-mannosidase, beta-glucuronidase, beta-D-fucosidase, acid and alkaline phosphatase were studied in meconium from infants with cystic fibrosis (CF) and control subjects. The study revealed significant variations in the specific activity of the enzymes except for acid phosphatase. The variations were not uniform. The activities of alpha-D-mannosidase, beta-glucuronidase and alkaline phosphatase were markedly decreased (p less than 0.001, p less than 0.002, p less than 0.001, respectively), while the activity of beta-D-fucosidase was significantly increased (p less than 0.001) in meconium from the infants with CF. It is suggested that the decreased activity of alpha-D-mannosidase and beta-glucuronidase might contribute to the accumulation of the abnormal substances in CF meconium. The highly increased activity of beta-D-fucosidase raises the possibility of an additional or alternative method for screening newborns for CF using meconium as the test material.
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PMID:Studies in meconium in cystic fibrosis: the activities of alpha-D-mannosidase, beta-glucuronidase, beta-D-fucosidase, acid and alkaline phosphatase. 21 31

It is confirmed that the level of alkaline phosphatase in fibroblasts derived from cystic fibrosis patients can be induced many-fold by growing the cells in the presence of Tamm-Horsfall glycoprotein. It is further shown that normal fibroblasts produce a "CF corrective factor" which markedly inhibits this phenomenon. These observations support a previous hypothesis on the nature of the metabolic defect in cystic fibrosis.
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PMID:Inhibition of Tamm-Horsfall glycoprotein induction of alkaline phosphatase in cystic fibrosis fibroblasts by medium conditioned by normal cells. 48 87

The membrane glycoprotein enzyme, alkaline phosphatase was induced in cultured human fibroblasts by dibutyryl cyclic AMP, sodium butyrate, the serum glycoprotein fetuin, the Tamm-Horsfall urinary glycoprotein, and by a number of inhibitors of DNA synthesis. The uninduced basal enzyme activity increased at later stages of growth when the cells became confluent. Induction by dibutyryl cyclic AMP or fetuin was most effective when the agents were added after the cells had reached stationary phase and was maximal after at least two days of exposure. The levels of induction resulting from the addition of pairs of the agents, dibutyryl cyclic AMP, n-butyrate and fetuin were additive indicating that these have different modes of action. The inhibitors of DNA synthesis, cytosine arabinoside, hydroxyurea, and methothrexate were less effective inducers. Bromodeoxyuridine which also has non-DNA mediated effects induced to the same extent as dibutyryl cyclic AMP. Similar experiments with sex- and age-matched cell strains derived from patients with cystic fibrosis failed to detect differences in the levels of induction from those observed in normal cells. In addition, the combined inductive effects of Tamm-Horsfall glycoprotein, isoproterenol and theophylline, were similar with normal and cystic fibrosis cells.
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PMID:Induction of alkaline phosphatase in cultured human fibroblasts. Comparison of normal cells and those from patients with cystic fibrosis. 48 38

The specific induction of alkaline phosphatase with Tamm-Horsfall glycoprotein, isoproterenol, and theophylline in skin-derived fibroblast cultures from patients with cystic fibrosis permits one to reliably discriminate between cystic fibrosis patients on the one hand, and heterozygotes and normals on the other. It was found the fibroblast-like and intermediary types of amniotic fluid-derived cells behave essentially like skin-derived fibroblasts. These findings imply that if different amniotic fluid cell types can be reliably separated, prenatal diagnosis of cystic fibrosis should become feasable in the near future.
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PMID:Reliable detection of cystic fibrosis in skin-derived fibroblast cultures. 56 36

The combined use of special cell culture techniques and biochemical ultramicromethods permits one to handle very small amounts of materials, to reduce the costs of chemicals, and more accurately to assess gene dosage effects by expressing enzyme activities per cell instead of per total cell protein. An alkaline phosphatase induction test has been developed which allows one to screen small numbers of fibroblasts for lysosomal storage diseases, cystic fibrosis, and chromosomal disorders. A successful attempt has been made to automate the microtechniques. Combining the alkaline phosphatase induction with the ultramicro automatization should eventually permit one to screen all pregnancies for major possible fetal genetic defects. Automated ultramicro enzyme assays should contribute to the general development of clinical chemistry.
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PMID:Quantitative assays of enzyme activity in single cells: early prenatal diagnosis of genetic disorders. 87 8

In 36 children with cystic fibrosis (CF) the isoenzymes of alkaline phosphatase (AP) were determined microelectrophoretically in polyacrylamide- and starch-gel. The study was done to evaluate the clinical significance of these additional data for the diagnosis of liver involvement in DF. The results led to the following conclusions: 1. Serum activity of total AP is comparatively unsensitive "masking" alterations in the isoenzyme pattern contributing to the AP serum activity. 2. In 17 children resp. 47% bile-duct phosphatase was increased indicating a secretostasis while other marker enzymes of cholestasis were normal in part. 3. The activity of bone phosphatase in the serum showed a significant correlation to the degree of growth retardation in these patients. 4. Intestinal phosphatase was present in the serum of only one child with cirrhosis of the liver being an indicator for liver insufficiency. 5. Determination of AP isoenzymes in the serum may provide additional information about the organs involved for the physician in handling CF patients.
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PMID:Isoenzymes of alkaline phosphatase in the serum of patients with cystic fibrosis. 113 40

We describe a method of detecting human DNA mutations with nonradioactive, biotinylated allele-specific oligonucleotide probes. This method can detect seven different mutations in the butyrylcholinesterase, cystic fibrosis, and N-acetyltransferase genes under identical assay conditions. This indicates that it may be used to detect mutations responsible for a wide variety of genetic diseases and pharmacogenetic conditions. The method involves first amplifying selected DNA fragments by the polymerase chain reaction and dot blotting the amplified DNA in duplicate onto small nitrocellulose squares. Each dot blot is then hybridized in individual wells containing a tetramethylammonium chloride solution with short biotinylated probes specific for either the normal or mutant allele. Successfully hybridized probes are detected by a simple colorimetric reaction using an avidin-alkaline phosphatase conjugate, which yields a very strong, clear signal. DNA from homozygous normal or mutant individuals hybridizes only to the normal- or mutant-specific probes respectively, while DNA from heterozygous individuals hybridizes equally well with both probes. These results can be easily interpreted to assign a genotype to the sample DNA. This method is amenable to automation, and may be useful in clinical laboratories for diagnosis of a wide variety of DNA mutations responsible for unusual reactions to drugs and environmental chemicals.
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PMID:Detection of human DNA mutations with nonradioactive, allele-specific oligonucleotide probes. 130 45

Ursodeoxycholic acid, 10 to 20 mg/kg per day, was administered for 1 year to 22 patients with cystic fibrosis and chronic cholestasis, resulting in significantly improved liver enzyme values. However, evidence of cholestasis continued, as shown by the pattern of alkaline phosphatase isoenzymes.
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PMID:Effects of ursodeoxycholic acid on liver function in patients with cystic fibrosis and chronic cholestasis. 135 43

An assay is described in which 11 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene can be screened simultaneously. Six different exons of the CFTR gene are amplified in a single multiplex amplification. Biotinylated dUTP is incorporated into the different fragments during the amplification process. A sample of this mixture is then hybridized to 21 different poly-dT tailed oligonucleotide probes which are bound to a nylon membrane. In order to screen the different mutations in a single step hybridization, the length of the different oligonucleotides and the amount used in the assay were optimized. The detection is performed by binding avidin-alkaline phosphatase to the biotin, followed by a chemiluminescent reaction. By means of this fast and sensitive assay, about 85% of all the cystic fibrosis mutations in the Belgian population can be detected.
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PMID:Simultaneous screening for 11 mutations in the cystic fibrosis transmembrane conductance regulator gene by multiplex amplification and reverse dot-blot. 137 93

In previous experiments, we have shown that isolates of Pseudomonas cepacia from sputa of patients with cystic fibrosis (CF), particularly those with severe lung infection, exhibited specific binding to purified respiratory or intestinal mucins (U. Sajjan, M. Corey, M. Karmali, and J. Forstner, J. Clin. Invest. 89:648-656, 1992). The present report describes the identification of the adhesin as a protein located on fimbriae of mucin-binding P. cepacia. From a total of 53 isolates available (from 22 patients with CF), we used three mucin-binding and three non-mucin-binding isolates for our experiments. Sodium dodecyl sulfate-polyacrylamide gel electrophoresis of crude P. cepacia homogenates was performed, the separated proteins were blotted onto nitrocellulose and overlaid with purified mucin, and mucin-binding components were detected with an antimucin antibody and then a second-antibody-alkaline phosphatase conjugate system. Only mucin-binding isolates exhibited a positively stained band at an Mr of 22,000. The 22-kDa protein was purified, and a polyclonal antibody specific for it was developed in rabbits. By electron microscopy and immunogold labelling, both the antibody and mucin (separately) were localized to pili present over the entire surface of the bacterial cells. Non-mucin-binding isolates did not have (or had very few) pili and did not stain with either mucin or the antibody to the 22-kDa protein. The purified 22-kDa protein and its antibody were each able to inhibit piliated P. cepacia binding to mucin. The amino acid composition of the 22-kDa protein was dissimilar to those of the major pilin proteins of Escherichia coli (type 1 pilus) and P. aeruginosa (PAK and PAO1 strains). Both the pili of P. aeruginosa PAK and PAO1 and antibodies to these pili failed to inhibit P. cepacia binding to mucin. Thus, P. cepacia adhesion to mucin is mediated by a pilin-associated 22-kDa protein which differs from epithelial-cell-binding pilin proteins of P. aeruginosa. We postulate that the 22-kDa adhesin may play a role in the virulence of P. cepacia lung infections of patients with CF.
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PMID:Identification of the mucin-binding adhesin of Pseudomonas cepacia isolated from patients with cystic fibrosis. 137 95


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