Purine and Pyrimidine Metabolism in Man X (Advances in Experimental Medicine and Biology Book 486)

th This volume contains articles presented at the X International Symposium on Purines and Pyrimidines in Man, held on May 14 19, 2000 in Tel Aviv, Israel. The first symposium in this series took place in Tel Aviv in 1973. Since then, the symposium has been held every three years in different parts of the world, including Europe, USA and Japan. The participants, in this series of symposia, are characterised by a wide interest in the various aspects of purines and pyrimidines in man, which include biochemistry, genetics, pharmacology, physiology, clinics, etc. Presentations in the symposia include clarification of metabolic pathways, characterisation of enzyme structure and kinetics and discoveries of new inborn errors of metabolism and suggestions for new therapeutic approaches for these inborn errors. In addition, development of new purine and pyrimidine derivatives for the treatment of cancer and viral diseases, and many more subjects of mutual interest were brought to the fore. With the development of therapeutic means and of new research tools, we have witnessed changes in the areas of interest. The interest in gout and uric acid urolithiasis has lessened, whereas molecular aspects, the role of purine and pyrimidine substances in neurotransmission and in purinergic signaling appear to gain greater interest. The articles, included in this volume, contain new data pertaining to the various aspects detailed above. Purine and Pyrimidine Metabolism Between Millennia: What has been Accomplished, What has to be Done?....Pages 1-4 Cell Type-Specific Differential Expression of Human PRPP Synthetase (PRPS) Genes....Pages 5-10 Mutations in the Hypoxanthine-Guanine Phosphoribosyltransferase Gene in Spanish HPRT Deficient Families....Pages 11-14 The Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase (HPRT) Deficiency....Pages 15-21 Deletion in the Hypoxanthine Phosphoribosyltransferase Gene Caused by Alu-Alu Recombination in Two Japanese Patients With Lesch-Nyhan Syndrome....Pages 23-27 Novel Genetic Mutations Responsible for the HPRT Deficiency and the Clinical Phenotypes in Japanese....Pages 29-33 Adenoviruses Encoding HPRT Correct the Biochemical Abnormalities Fully Only in HPRT-Deficient Human Cell Lines: Importance of Species Differences....Pages 35-40 Biochemical and Immunological Abnormalities in Purine Nucleoside Phosphorylase Deficient Mice....Pages 41-45 Carrier Erythrocyte Entrapped Adenosine Deaminase Therapy in Adenosine Deaminase Deficiency....Pages 47-50 ADA Activity and dATP Levels in Erythrocytes after Bone Marrow Transplantation....Pages 51-55 Adenosine Deaminase-Deficient Mice: Models for the Study of Lymphocyte Development and Adenosine Signaling....Pages 57-63 Inhibition of Fetal Thymic Caspases Abrogates the Consequences of Adenosine Deaminase Deficiency....Pages 65-70 Erythrocyte AMP Deaminase Deficiency in Japanese: A Compound Heterozygote Responsible for the Complete Deficiency....Pages 71-74 Effect of Uridine Administration to a Patient with Adenylosuccinate Lyase Deficiency....Pages 75-78 Adenylosuccinate Lyase Deficiency: From the Clinics to Molecular Biology....Pages 79-82 Polymorphic Markers in the XDH Gene as Diagnostic Tools for Typing Classical Xanthinuria....Pages 83-86 NAPDD Patients Exhibit Altered Electrophoretic Mobility of Cytosolic 5′ Nucleotidase....Pages 87-90 Purines, Lactate and Myo-Inositol in CSF Might Reflect Excitotoxicity in Inherited Metabolic Disorders....Pages 91-95 Cerebrospinal Fluid Purines, Pyrimidines, Organic Acids and Amino Acids in Neonatal Citrullinaemia....Pages 97-101 Purine Nucleotide Catabolism in Rat Liver....Pages 103-106 Further Refinement on the Engineering of Adenosine Phosphorylase from Purine Nucleoside Phosphorylase....Pages 107-110 Human Guanine Deaminase: Cloning, Expression and Characterisation....Pages 111-114 The Human NUDT Family of Nucleotide Hydrolases....Pages 115-118 Inhibitors of NTPDase: Key Players in the Metabolism of Extracellular Purines....Pages 119-123 Apoptosis-Inducing Cleavage of Caspases by Trimidox, an Inhibitor of Ribonucleotide Reductase....Pages 125-130 Increased Visceral Fat Accumulation in Patients with Primary Gout....Pages 131-134 Serum Uric Acid Levels and Microalbuminuria in Mild Hypertensive Patients....Pages 135-137 Guanosine-5′-Triphosphate Increases in Red Blood Cells of Heart Transplant Recipients Treated with Mycophenolate Mofetil....Pages 139-143 Adenine Incorporation in Endothelial Cells....Pages 145-148 TNF-□ Reduces the Activity of Ecto-5′-Nucleotidase in Human Endothelial Cells....Pages 149-152 Influence of Age and Heat Stress on Cardiac Function and Nucleotide Levels....Pages 153-157 The Role of 5′ -Deoxy-5′-Methyl Thioadenosine Phosphorylase in Cardiac Adenosine Breakdown and Adenine Production....Pages 159-162 The Effect of Adenosine Metabolism Inhibition and Nucleotide Precursor Supply on Adenosine Production in Human Heart Endothelial Cells....Pages 163-166 Enhanced Endogenous Adenosine Production and Protection of the Heart after Transplantation....Pages 167-170 Role of Bovine Hemoglobin Enriched Cardioplegia in Myocardial Preservation....Pages 171-174 Identification of the Potential Sensitive Urate/PAH Transporter from LLC-PK 1 Kidney Epithelial Cells....Pages 175-178 Genomic Structure of Galectin-9 Gene....Pages 179-183 Effect of Losartan and Furosemide on the Urinary Excretion of Oxypurinol and Uric Acid....Pages 185-188 P2Y and P2X Purinoceptors are Respectively Implicated in Endothelium- Dependent Relaxation and Eedothelium Independent Contraction in Human Corpus Cavernosum....Pages 189-195 ATP-Triggered Calcium Signals in Human Neutrophils....Pages 197-200 The Role of A1/A3 Adenosine Receptor Activation in Reduction of Cardiomyocyte Injury Caused by Hypoxic Stress and in Induction of Apoptosis in Rat Cardiomyocyte Cultures....Pages 201-205 Blockade of A 1 Receptors by Caffeine Induces C- fos , Zif -268 and ARC Expression in the Striatum Through Different Interactions with the Dopamine System....Pages 207-216 Role of K ATP Channels in the Induction of Ischemic Tolerance by the ‘Adenosine Mechanism’ Neuronal Cultures....Pages 217-221 Adenosine-Induced Caspase Activity in N1E-115 Cells....Pages 223-226 Effect of Adenosine Receptor Agonists and Antagonists on Transport of Adenosine in Bovine Heart Microvascular Endothelial Cells....Pages 227-231 Defects of Pyrimidine Degradation: Clinical, Molecular and Diagnostic Aspects....Pages 233-241 Confirmation of the Enzyme Defect in the First Case of β-Ureidopropionase Deficiency....Pages 243-245 Dihydropyrimidine Dehydrogenase (DPD) Deficiency: Novel Mutations in the DPD Gene....Pages 247-250 Dihydropyrimidine Dehydrogenase Deficiency and 5-Fluorouracil Associated Toxicity....Pages 251-255 Isoforms of Human CTP Synthetase....Pages 257-261 Polyclonal Antibodies Against the Ultrafast Multisubstrate Deoxyribonucleoside Kinase from Drosophila Melanogaster....Pages 263-266 Inhibition and Localization of Human and Rat Dihydroorotate Dehydrogenase....Pages 267-270 6-Mercaptopurine: Efficacy and Bone Marrow Toxicity in Childhood Acute Lymphoblastic Leukemia....Pages 271-275 Recovery of SK-N-Be(2)C Cells from Treatmemt with Cyclopentenyl Cytosine....Pages 277-280 Effect of Phosphorylation on Deoxycytidine Kinase Activity....Pages 281-285 The Role of Deoxycytidine Kinase in Gemcitabine Cytotoxicity....Pages 287-290 Thymidine Phosphorylase in Angiogenesis and Drug Resistance....Pages 291-294 Secretion of Thymidine by Hybridoma Cells....Pages 295-301 Thymidylate Synthase Inhibition Induces P53 Dependent and Independent Cell Death....Pages 303-306 2-Chlorodeoxyadenosine (2-CDA) does not Change the Expression of Fas Antigen on Chronic Lymphocytic Leukaemia Cells....Pages 307-310 Cyclopentenyl Cytosine Increases the Phosphorylation and Incorporation into DNA of Arabinofu-Ranosyl Cytosine in a Myeloid Leukemic Cell-Line....Pages 311-317 Cyclopentenyl Cytosine Induces Apoptosis and Secondary Necrosis in a T-Lymphoblastic Leukemic Cell-Line....Pages 319-325 Thiopurine Methyl Transferase: Activity and Genotyping in Patients with Acute Lymphoblastic Leukemia....Pages 327-331 Hyperthermy Increase the Phosphorylation of Deoxycytidine in the Membrane Phospholipid Precursors and Decrease its Incorporation into DNA....Pages 333-337 Purine Nucleotide Metabolism in Chronic Lymphocytic Leukemia Lymphocytes....Pages 339-342 Inhibition of DNA Methylation by 5-Aza-2′-Deoxycytidine Correlates with Induction of K562 Cells Differentiation....Pages 343-347 Evidence of Inhibition of DNA Methylation by Fludarabine....Pages 349-353 The Cytotoxic Effect of Purine Riboside on COS-7 Cells....Pages 355-359 Methylated and Non Methylated Thiopurine Nucleotide Ratio (ME6-MPN/6-TGN): Usefulness in the Monitoring of Azathioprine Therapy?....Pages 361-367 Organ Preservation During Experimental Liver Transplantation....Pages 369-372 Extraction and Purification of Ecto-5′-Nucleotidase from Human Lymphocytes....Pages 373-376 HPLC/ESI Tandem-MS of Liquid Urine or Urine Soaked Filter-Paper Strips for the Detection of Thymine-Uraciluria and Dihydropyrimidinuria....Pages 377-382 Screening for Purine and Pyrimidine Disorders Using Dried Urine Spots....Pages 383-388 Determination of Methylated Purine Bases in Urine from Healthy Subjects....Pages 389-392 Decrease in Urinary Uric Acid Concentrations after Urine Storage....Pages 393-397 Mass Spectrometry for Analysis of Purine and Pyrimidine Compounds....Pages 399-403 Pt. 1. Inborn Errors Of Purine Metabolism -- Pt. 2. Purine Metabolism -- Pt. 3. Gout And Hyperuricemia -- Pt. 4. Purines In Cardiology -- Pt. 5. Renal Handling Of Purines -- Pt. 6. Purinergic Signalling -- Pt. 7. Inborn Errors Of Pyrimidine Metabolism -- Pt. 8. Pyrimidine Metabolism -- Pt. 9. Oncology And Chemotherapy -- Pt. 10. Methods. Edited By Esther Zoref-shani And Oded Sperling. Proceedings Of The Tenth International Symposium On Purine And Pyrimidine Metabolism In Man, Held May 14-19, 2000, In Tel-aviv, Israel--t.p. Verso. Includes Bibliographical References And Index. This book is the proceedings of the Tenth International Symposium on Purine and Pyrimidine Metabolism in Man. Articles included contain new data concerning the various aspects of purine and pyrimidine in man. The main topics covered are: normal metabolism of purines and pyrimidines; the inborn errors of purine and pyrimidine metabolism; purinergic signaling; chemotherapy with purine and pyrimidine analogues, renal handling of purines and some methodological approaches for the study of the various aspects of purine and pyrimidine metabolism