توضیحاتی در مورد کتاب :
این مجلدها ارائههای ارائه شده در هشتمین سمپوزیوم بینالمللی متابولیسم پورین و پیریمیدین در منهلد در دانشگاه ایندیانا، بلومینگتون، ایالات متحده از 22 تا 27 مه 1994 را ثبت میکنند. این ادامه جلساتی بود که هر سه سال یک بار با این ایده برگزار میشد. از گرد هم آوردن پزشکان و دانشمندان پایه، که امیدواریم به بارور شدن ایده ها منجر شود. برخی از مقالات ارائه شده در این جلد بیانگر مشارکت شفاهی و برخی دیگر از پوستر هستند، اما تأکید می کنیم که هر دو از ارزش یکسانی برخوردار هستند. همانطور که از مطالعه عناوین مقالات مشخص است، تغییری در تمرکز این جلسه صورت گرفته است که نشان دهنده تغییر کلی در زمینه متابولیسم پورین و پیریمیدین است. قطعاً تأکید به ساختار ژن و ژنتیک مولکولی تغییر کرده است، با آغازی که امیدواریم ژن درمانی به عنوان یکی از شاخه های مهم این حوزه از علم باشد. اگرچه بسیاری از بیماریهای ارثی مورد بحث در این متن را میتوان با دارو درمان کرد، اما هدف اصلی در آینده در ژن درمانی خواهد بود، جایی که ژن (یا cDNA) برای درمان بیمار مبتلا به کمبود آنزیم استفاده میشود، بهویژه اگر بیمار مبتلا به کمبود آنزیم باشد. جوان همانطور که از فهرست نویسندگان مشاهده می شود، میزان قابل توجهی از همکاری بین المللی در این زمینه در سراسر کشورها و قاره ها وجود دارد. از شرکت کنندگان بسیاری که بارها در این سمپوزیوم ها شرکت کرده اند تشکر می کنیم و از گروه بزرگی از دانشمندان اروپای شرقی که برای اولین بار در این نشست شرکت می کنند استقبال می کنیم.
فهرست مطالب :
Front Matter....Pages i-xxi
Diagnosis and Treatment of Inborn Errors of Purine and Pyrimidine Metabolism: An Overview....Pages 1-6
Determination of Dihydropyrimidine Dehydrogenase (DPD) in Fibroblasts of a DPD Deficient Pediatric Patient and Family Members using a Polyclonal Antibody to Human DPD....Pages 7-10
The Effect of Partial Hepatectomy on Blood Purine Levels in Rats and Patients....Pages 11-14
Abnormal Purine and Pyrimidine Metabolism in Inherited Superactivity of PRPP Synthetase....Pages 15-18
Accelerated Purine Base Salvage — A Possible Cause of Elevated Nucleotide Pool in the Erythrocytes of Patients with Uraemia....Pages 19-22
Quantitation of TK1 mRNA in Patients with Chronic Lymphatic Leukemia....Pages 23-26
Effect of Hypouricemic Agents on Serum Carbohydrate-Deficient Transferrin in Gouty Patients....Pages 27-30
Renal Hemodynamic in Familial Nephropathy Associated with Hyperuricemia (FNAH)....Pages 31-34
Renal Urate Hypoexcretion in Polynesian Women is not as Severe as in United Kingdom (UK) Women with Familial Juvenile Hyperuricaemic Nephropathy (FJHN)....Pages 35-38
Renal Clearances of Purine Bases and Oxypurinol During Glucose Infusion....Pages 39-42
In Vitro and In Vivo Study on the Conversion of Allopurinol and Pyrazinamide....Pages 43-46
Free Oxypurines in Plasma and Urine of Gout Patients Before and After a Purine-Free Diet....Pages 47-52
Analysis of the Genotypes for Aldehyde Dehydrogenase 2 in Japanese Patients with Primary Gout....Pages 53-56
Hypouricemia and an Increased Clearance of Uric Acid are Observed in Liver Diseases?....Pages 57-60
The Influence of Allopurinol on Renal Deterioration in Familial Nepropathy Associated with Hyperuricemia (FNAH)....Pages 61-64
Ultrasound Imaging and Colour Doppler Studies in Familial Nephropathy Associated with Hyperuricemia (FNAH)....Pages 65-68
Purine Metabolism in Female Patients with Primary Gout....Pages 69-72
Familial Juvenile Hyperuricaemic Nephropathy in Adolescents....Pages 73-76
Correlation of Serum Uric Acid, Cholesterol and Triglyceride Levels....Pages 77-78
Serum Concentration of Lp(a) in Patients with Primary Gout....Pages 79-82
Study on Lipoprotein Lipase and Hepatic Triglyceride Lipase Activities in Patients with Gout....Pages 83-86
Benzbromarone and Fenofibrate are Lipid Lowering and Uricosuric: A Possible Key to Metabolic Syndrome?....Pages 87-90
The Normal Range of Serum Urate Levels and of Fractional Urate Excretion....Pages 91-93
Therapy Related Disturbances in Nucleotides in Cancer Cells....Pages 95-107
Comparison of 5-Fluoro-2’-Deoxyuridine and 5-Fluorouracil in the Treatment of Murine Colon Cancer; Effects on Thymidylate Synthase....Pages 109-114
Intracellular Pharmacology and Biochemistry of Methotrexate and 6-Mercaptopurine in Childhood Acute Lymphoblastic Leukemia....Pages 115-118
Modulation of Arabinosylcytosine Metabolism during Leukemia Therapy....Pages 119-124
A New Mechanism of Toxicity of 2-Chlorodeoxyadenosine (2CdA)....Pages 125-128
The Influence of 2-Chlorodeoxyadenosine (2-CdA) Alone and in Combination with Cyclophosphamide or Methotrexate on Normal and Leukemic Hematopoiesis....Pages 129-130
Utilization of Purine and Pyrimidine in Human Gastric Cancer Cells (Kato III): Effect of a Nucleotide and Nucleosides Mixture (OG-VI) Solution on Proliferation with Coadministration of 5-Fluorouracil....Pages 131-134
Inhibition of the Proliferation of Human Cancer Cells In-Vitro by Substrate-Analogous Inhibitors of dUTPase....Pages 135-138
Synergistic Interaction between Cisplatin and Gemcitabine in Ovarian and Colon Cancer Cell Lines....Pages 139-143
Antimetabolites Reduce the Activities of Enzymes with Short Half-Lives in Addition to Inhibiting their Specific Targets....Pages 145-150
Inhibition of Murine Amido Phosphoribosyltransferase by Folate Derivatives....Pages 151-154
Inosine 5’-Monophosphate Dehydrogenase as a Chemotherapeutic Target....Pages 155-160
Pharmacokinetics/Pharmacodynamics of CI-1000, a Purine Nucleoside Phosphorylase (PNP) Inhibitor, in Rats and Monkeys....Pages 161-165
Blockade of Nucleoside Degradation in Monkey Whole Blood in Vitro by CI-1000, a Purine Nucleoside Phosphorylase (PNP) Inhibitor....Pages 167-171
Changes in Monkey Plasma Purines Induced by Repeated Doses of CI-1000, a Novel Inhibitor of Purine Nucleoside Phosphorylase....Pages 173-177
Inhibitors of Thymidylate Synthase and Glycinamide Ribonucleotide Transformylase....Pages 179-183
The Antitumour Activity of ZD9331, a Non-Polyglutamatable Quinazoline Thymidylate Synthase Inhibitor....Pages 185-188
Cross-Resistance to Thymidylate Synthase Inhibitors in P-Glycoprotein and Non-P-Glycoprotein Cell Lines....Pages 189-193
Nucleotide Metabolism: Mode of Action of Thiopurines in Leukemia....Pages 195-200
Mitochondrial Versus Cytosolic Activities of Deoxyribonucleoside Salvage Enzymes....Pages 201-204
Does Low-Dose Allopurinol, with Azathioprine, Cyclosporin and Prednisolone, Improve Renal Transplant Immunosuppression?....Pages 205-208
Purine Nucleotide Interconversion Enzymes in Childhood Leukemia: Relation with Cell Cycle and Clinical Outcome....Pages 209-212
Behavior of Enzymes Involved in Purine Nucleotide Metabolism in Tumors....Pages 213-218
Purine and Pyrimidine Metabolisms in Human Gliomas, Melanomas and Colon Carcinomas Xenografts, Relation to their Cytogenetic Profile....Pages 219-225
Ecto-5’-Nucleotidase Activity in Lymphocytes from Healthy and Leukemia Patients....Pages 227-230
Endo-5’-Nucleotidase Activity in Lymphocytes from Healthy Subjects and Leukemia Patients....Pages 231-235
Purine Nucleotide Content in the Leukocytes of Leukemia Patients....Pages 237-241
AMP-Deaminase from Human Uterine Muscle Neoplasm (Leiomyoma)....Pages 243-247
Regulation of Gene Expression of Adenosine Deaminase, Purine Nucleoside Phosphorylase and Terminal Deoxynucleotidyl Transferase by Dexamethasone and cAMP in Human Leukemic Cells....Pages 249-252
Altered Substrate and Inhibitor Specificity of Purified Human Adult Thymidine Kinases (TK2) from Leukemic Cells....Pages 253-256
Elevated Ratio between Deoxycytidine Kinase and Thymidine Kinase 2 in CLL Lymphocytes Compared to Control Cells....Pages 257-259
The Roles of Uridine-Cytidine Kinase and CTP Synthetase in the Synthesis of CTP in Malignant Human T-Lymphocytic Cells....Pages 261-264
Metabolism of UDP-N-Acetyl-Hexoses and UDP-Hexoses in Normal Human T-Lymphocytes and MOLT-3 T-Leukemia Cells....Pages 265-268
Pattern of Methylated Purine Bases in Urine of Cancer Patients. Analysis by Mass Spectrometry....Pages 269-273
Cytotoxicity of Deoxycoformycin on Human Colon Carcinoma Cell Lines....Pages 275-278
Imbalance between the Pyrimidine Ribonucleotide Pools in Rat Rhabdomyosarcoma R1 Cells....Pages 279-282
Compartmentation of Ribonucleotides in PC-12 Cells: Free and Protein Bound Ribonucleotides....Pages 283-286
The Effect of Ischemic Preconditioning on Nucleotide Metabolism and Function of Rat Heart after Prolonged Cold Storage....Pages 287-290
Does Adenosine Deaminase Inhibition Protect Ischemic Myocardium?....Pages 291-294
Is Hypoxanthine a Useful Marker of Perinatal Hypoxia?....Pages 295-298
Endothelial Cells’ Responses to Hypoxia and Reperfusion....Pages 299-302
Inhibition of Lipid Peroxidation by Purines and Analogues of Purine....Pages 303-306
A Study of Anoxia in Rat Hepatocytes....Pages 307-311
Adenine Nucleotide Levels and Lipid Peroxidation at Hypoxia and Reoxygenation in Different Cell Types....Pages 313-318
Purine and Pyrimidine Catabolite Production in the Postischemic Rat Heart — Effect of Adenosine Supply during Reperfusion....Pages 319-322
The AMP — Adenosine Cycle is Active During Normoxia and Impaired in ATP Depletion in Isolated Rabbit Cardiomyocytes....Pages 323-326
Search for the Mechanisms of High Incidence of APRT Deficiency Among Japanese....Pages 327-330
Genetic and Clinical Heterogeneity in Hypoxanthine Phosphoribosyltransferase Deficiencies....Pages 331-335
Molecular Mechanisms of the Second Female Lesch-Nyhan Patient....Pages 337-340
Clinical Symptoms of Patients with Partial HPRT Deficiency....Pages 341-344
Normal Hypoxanthine and Ammonia Release from Working Muscle in Partial HPRT Deficiency....Pages 345-348
Altered Pyridine Metabolism in the Erythrocytes of a Mentally Retarded Infant with Partial HPRT Deficiency....Pages 349-352
Treatment of Lesch-Nyhan Syndrome with AICAR....Pages 353-356
Plasma and Urinary Oxypurines in Lesch-Nyhan Patient after Allopurinol Treatment....Pages 357-361
Adenylosuccinate Lyase Deficiency: An Update....Pages 363-366
Adenylosuccinate Lyase Deficiency in a Czech Girl and Two Siblings....Pages 367-370
Anomalous Response to Intravenous Fructose Tolerance Test in a Case of Deficit of Adenylosuccinate Lyase....Pages 371-374
Effect of Allopurinol on the Xanthinuria in a Patient with Molybdenum Cofactor Deficiency....Pages 375-378
Differential Diagnosis of Main Rheumatic Diseases in Man....Pages 379-382
Dihydropyrimidinuria: The First Case in Japan....Pages 383-386
Normal Uric Acid Concentrations in a Purine Nucleoside Phosphorylase (PNP) Deficient Child Presenting with Severe Chicken Pox, Possible Immunodeficiency and Developmental Delay....Pages 387-389
Biochemical and Immunological Status Following Gene Therapy and PEG-ADA Therapy for Adenosine Deaminase (ADA) Deficiency....Pages 391-394
Genetic Manipulation of Hematopoietic Stem Cells in Adenosine Deaminase Deficiency....Pages 395-400
A1 Adenosine Receptors in Human Neutrophils: Electron Microscope Localization Using a Colloidal Cha-Gold-Albumin Probe....Pages 401-405
A 2 Adenosine Receptors in Neutrophils from Healthy Volunteers and Patients with Rheumatoid Arthritis....Pages 407-410
The Antiinflammatory Effects of Methotrexate are Mediated by Adenosine....Pages 411-416
Endogenous Adenosine Formation can Regulate Human Neutrophil Function....Pages 417-421
Acadesine: Preclinical Overview....Pages 423-426
Regulation of Endogenous Adenosine Levels in the CNS: Potential for Therapy in Stroke, Epilepsy and Pain....Pages 427-430
Enzymes of Adenosine Metabolism in the Heart, Cardiomyocytes and Endothelium....Pages 431-434
Adenosine Uptake and Metabolism in Human Endothelial Cells....Pages 435-438
Sah-Hydrolase Activity in Haemolysate and Intact Erythrocytes; The Effect of Adenosine Analogues....Pages 439-441
Chemotherapeutic Options in HIV Infection....Pages 443-451
Changes of Purine Nucleotide Content in Lymphocytes from Patients Infected with Human Immunodeficiency Virus....Pages 453-458
Anti-Retroviral and Pharmacological Properties of 9-(2-Phosphonylmethoxyethyl)Adenine (PMEA)....Pages 459-464
Properties of Mitochondrial DNA Metabolising Enzymes; Implications for Chemotherapy....Pages 465-469
Adenosine Deaminase (ADA) Deficiency as the Unexpected Cause of CD4+ T-Lymphocytopenia in Two HIV-Negative Adult Female Siblings....Pages 471-474
Serum Guanase Activity in Hepatitis C Virus Infection....Pages 475-482
Ganciclovir Nucleotide Analysis in Human Myocardial Tissue. Usefulness in the Diagnosis of Cytomegalovirus Myocarditis....Pages 483-485
Toxicity of Adenosine Analogues against Human Malaria ( Plasmodium falciparum )....Pages 487-491
Altered Purine Nucleoside Transport as a Target for Malaria Chemotherapy....Pages 493-498
Quantitative Determination of Trypanosoma cruzi Growth inside Host Cells in Vitro and Effect of Allopurinol....Pages 499-502
Polyamine Content of Acanthamoeba polyphaga at Different Stages of Development and the Effect of Pentamidine....Pages 503-508
Specific Enzyme Synthesizing Adenosine from Adenine and Ribose-1-Phosphate in Invertebrates....Pages 509-512
Molecular Characterization of a Carbamoyl-Phosphate Synthetase II (CPS II) Gene from Trypanosoma cruzi ....Pages 513-516
Development of a Mouse Model for the Study of Human Purine Metabolism....Pages 517-521
Effect of Galactosamine on Adenine and Uracil Nucleotide Levels in Isolated Hepatocytes of Young and Old Rats....Pages 523-526
Influence of Purines on Endothelial High Energy Phosphates....Pages 527-530
Ribose 1-P-Dependent ADP and ATP Formation in Rat Liver....Pages 531-535
Myocardial 5’Deoxy-5’Methylthioadenosine Phosphorylase....Pages 537-539
A Nucleoside Mixture and its Sparing Effect on de novo Purine Nucleotide Synthesis....Pages 541-544
de novo Pyrimidine Nucleotide Biosynthesis in Synchronized Chinese Hamster Ovary Cells....Pages 545-548
The Catalytic Mechanism of Hamster Dihydroorotase....Pages 549-553
Stimulation by 6-Azauridine of de novo Pyrimidine Biosynthesis in BHK 165-23 Cells....Pages 555-558
Observed Resistance to Pyrimidine Analogs and Sensitivity to Uracil in Drosophila is attributed to Deregulation of Pyrimidine Metabolism....Pages 559-565
Expression of de novo Pyrimidine Biosynthesis Genes during Spermatogenesis in Drosophila melanogaster ....Pages 567-574
Regulation of Calf Thymus Cytosolic 5’-Nucleotidase/Nucleoside Phosphotransferase....Pages 575-578
Diverse Genetic Regulatory Elements are Required to Direct the Proper Tissue-Specific and Developmental Expression of the Murine Adenosine Deaminase Gene....Pages 579-584
The Muscle and Nonmuscle Isozymes of Adenylosuccinate Synthetase are Encoded by Separate Genes with Differential Patterns of Expression....Pages 585-590
Expressing Enzymatic Domains of Hamster CAD in CAD-Deficient Chinese Hamster Ovary Cells....Pages 591-595
Homology and Mutagenesis Studies of Hamster Dihydroorotase....Pages 597-601
Evolution of the GATase, CPSase, DHOase-LIKE, ATCase Multifunctional Protein in Eukaryotes: Genetic and Molecular Approaches with Yeasts S. cerevisiae and S. pombe ....Pages 603-606
Nucleoside Diphosphate Kinase: an Old Enzyme with New Functions?....Pages 607-611
Production of Adenosine and Nucleoside Analogues by an Exchange Reaction Catalyzed by Adenosine Kinase....Pages 613-616
Different Substrate Specificity of Two Isozymes of Cytosolic 5’-Nucleotidase from Rabbit Heart....Pages 617-621
Human Placental Cytosolic Purine 5’-Nucleotidase is Effectively Reactive with an Anti-Chicken Liver Enzyme Antibody....Pages 623-626
Characterization of the Adenine Phosphoribosyltransferase from Saccharomyces cerevisiae ....Pages 627-630
Differential Substrate Properties of Mammalian Ribonucleotide Reductase....Pages 631-635
Altered Kinetic Properties of Recombinant Human Cytosolic Thymidine Kinase (TK1) as Compared with the Native Form....Pages 637-640
The Promoter of the Cho APRT Gene Contains Three Regulatory Regions....Pages 641-645
The Mouse APRT Gene as a Model for Studying Epigenetic Gene Inactivation....Pages 647-652
Analysis of in Vivo Somatic Mutations at the APRT Locus....Pages 653-656
Identification of Polymorphic Markers Flanking the Human APRT Gene....Pages 657-660
Germline and Somatic Mutation at the APRT Locus of Mice and Man....Pages 661-664
Isolation and Characterization of Mutations in the Mouse APRT Gene that Encode Functional Enzymes with Resistance to Toxic Adenine Analogs....Pages 665-670
Analysis of APRT Mutations by Reverse-Transcription PCR....Pages 671-674
Molecular Characterization of a Novel Mutation in APRT Heterozygotes....Pages 675-678
Direct Evidence for a Hot Spot of Germline Mutation at HPRT Locus....Pages 679-682
Regulation of Low Km (Ecto) 5’-Nucleotidase Gene Expression in Leukemic Cells....Pages 683-687
Ecto-5’-Nucleotidase (CD73): Genomic Cloning and Characterization of Regions Upstream of the Translation Start Site....Pages 689-692
Molecular Cloning and Sequence Analyses of Rat Liver Dihydroorotate Dehydrogenase....Pages 693-697
Mutagenesis Studies of Conserved Residues in Mammalian Dihydroorotase....Pages 699-702
Gene Mutations for Human Erythrocyte AMP Deaminase Deficiency....Pages 703-706
Point Mutations in PRPS1 , the Gene Encoding the PRPP Synthetase (PRS) 1 Isoform, Underlie X-Linked PRS Superactivity Associated with Purine Nucleotide Inhibitor-Resistance....Pages 707-710
2’, 3’-Dideoxycytidine Phosphorylation by Recombinant Mouse and Human Deoxycytidine Kinase....Pages 711-714
Feedback of S. cerevisiae CPSase-ATcase: Selection, Cloning and Sequencing of Mutant Alleles....Pages 715-720
Gene Structure and Regulation of the Expression of the R1 and R2 Subunits of Mouse Ribonucleotide Reductase....Pages 721-724
Molecular Characterization of IMP Dehydrogenase in Acquired Resistance to Mycophenolic Acid....Pages 725-728
Function of the Polypeptide Chain Segment Connecting the Dihydroorotase and Aspartate Transcarbamylase Domains in the Mammalian Multifunctional CAD....Pages 729-733
Mapping a Gene that Determines Erythrocytic Guanosine-5’-Triphosphate Concentration (Gtpc) on Mouse Chromosome 9....Pages 735-738
Regulation of Mammalian Serine Hydroxymethyltransferase....Pages 739-739
Regulation and Role of Inosine-5’-Monophosphate Dehydrogenase in Cell Replication, Malignant Transformation, and Differentiation....Pages 741-746
Reciprocal Alterations of Enzymic Phenotype of Purine and Pyrimidine Metabolism in Induced Differentiation of Leukemia Cells....Pages 747-751
Extracellular Concentrations of Oxypurines in Xanthine Oxidase-Deficient Hepatoma-Derived Cell Line HuH-7....Pages 753-756
Induction of Cell Differentiation by IMPDH Antisense Oligomer in HL-60 and K562 Human Leukemia Cell Lines....Pages 757-760
Inhibition of CTP Synthetase Induces Differentiation of HL-60 Cells and Down-Regulation of the C-MYC Oncogene....Pages 761-764
Adenosine Transport and Metabolism in Cardiomyocytes of Hyperthyroid Rat....Pages 765-768
Nucleoside Transport and Metabolism in Lymphocytes, Polymorphonuclear Cells and Cerebral Synaptosomes....Pages 769-774
Inhibition of Nucleoside Transport by Reactive Oxygen Species in Bovine Heart Microvascular Endothelial Cells....Pages 775-778
Novel Nucleoside Transport Inhibitors of Natural Origin....Pages 779-782
Modification of Tumor Necrosis Factor (TNF) Production and Survival Rate by a Nucleoside Mixture in Lipopolysaccharide-Injected Rats....Pages 783-786
The Effect of Dietary Nucleic Acid Deficiency and the Administration of a Nucleotide and Nucleosides Mixture Solution on Endotoxin Shock in Rats....Pages 787-790
Radioimmunoassay of Folic Acid and its Correlation with Age....Pages 791-793
Uric Acid and Allantoin in Rat Liver after Oxonic Acid and 14 C-Formate....Pages 795-799
The Measurement of Deoxynucleotide (dNTP) Pools by Radioimmunoassay (RIA)....Pages 801-804
Rapid Simultaneous Measurement of Nucleotides, Nucleosides and Bases in Tissues by Capillary Electrophoresis....Pages 805-810
Application of Capillary Zone Electrophoresis for Rapid Screening of Enzymatic Defects in Purine Metabolism....Pages 811-814
A Reverse-Phase HPLC Method for Cyclic Nucleotide Phosphodiesterases Activity and Classification....Pages 815-820
Determination of the Activity of Recombinant Human Phosphoribosylpyrophosphate Synthetase Isoform 1 by a Non-Isotopic, One-Step Method....Pages 821-824
Back Matter....Pages 825-836
توضیحاتی در مورد کتاب به زبان اصلی :
These volumes record the presentations made at the VIII International Symposium on Purine and Pyrimidine Metabolism in Manheld at Indiana University, Bloomington, USA from May 22- May 27, 1994. This was a continuation of meetings held every three years with the idea of bringing clinicians and basic scientists together, which we hope results in cross-fertilization of ideas. Some of the papers presented in this volume represent oral contributions and others are from posters, but we emphasize that both are considered of equal merit. As is obvious from a perusal of the titles of the papers there has been a shift in the focus of this meeting, which reflects a general shift in the area of purine and pyrimidine metabolism. The emphasis has definitely shifted to gene structure and molecular genetics, with the beginnings we hope of gene therapy as an important branch of this area of science. Although many of the inherited diseases discussed in this text can be treated with drugs, the major thrust in the futurewill be in gene therapy, where the gene (or cDNA) will be used to treat the patient with enzyme deficiency, particularly if the patient is young. As can be seen from the Iist of authors there is a remarkable degree of international cooperation in this area across countries and continents. We thank the many participants who have attended these symposia many times, and we welcome the large group of scientists from Eastern Europe who are attending this meeting for the first time.