Purine Metabolism in ManII

Zusatztext

The study of gouty arthritis has provided a common meeting ground for the research interests of both the basic scientist and the clinician. The interest of the chemist in gout began 1776 with the isolation of uric acid from a concretion of the urinary tract by the Swedish chemist SCHEELE. The same substance was subsequently extracted from a gouty tophus by the British chemist WOLLASTONE in 1797 and a half century later the cause of the deposits of sodium urate in such tophi was traced to a hyperuricemia in the serum of gouty patients by the British physician Alfred Baring GARROD who had also received training in the chemical laboratory and was therefore a fore-runner of many of today's clinician-investigators. The recent surge of progress in understanding of some of the causes of gout in terms of specific enzyme defects marks the entrance of the biochemist into this field of investigation. The identification of the first primary defect of purine metabolism associated with over-production of uric acid, a severe or partial deficiency of the enzyme hypoxanthine-guanine phospho­ ribosyltransferase was achieved less than a decade ago. The knowledge of the mechanism of purine over-production that it generated led shortly to the identification of families carrying a dominantly (possibly X-linked) inherited increase in the activity of the enzyme phosphoribosylpyrophosphate synthetase as a cause of purine over-production. Yet this is only a start as these two types of enzyme defects account for less than five per cent of gouty patients.

Autorenportrait

Inhaltsangabeof Volume 76 A.- History of Gout. Including Comments from an Illustrious Timeless Gathering.- Metabolic Pathways of Purines.- A Multienzyme Complex for De Novo Purine Biosynthesis.- Coordinate Regulation of the Proximal and Distal Steps of the Pathway of Purine Synthesis De Novo in WI-L2 Human Lymphoblasts.- Purine Toxicity in Human Lymphoblasts.- Studies on the Regulation of the Biosynthesis of Myocardial Adenine Nucleotides.- Effect of Triiodothyronine on the Biosynthesis of Adenine Nucleotides and Proteins in the Rat Heart.- Altered Synthesis and Catabolism of Purine Nucleotides in Regulatory Mutants of Saccharomyces Cerevisiae.- Phosphoribosylpyrophosphate Synthesis in Human Erythrocytes: Inhibition by Purine Nucleosides.- Human Phosphoribosylpyrophosphate Synthetase: Relation of Activity and Quaternary Structure.- Transfer of Resistance to Selective Conditions from Fibroblasts with Mutant Feedback-Resistant Phosphoribosylpyrophosphate Synthetase to Normal Cells. A Form of Metabolic Cooperation.- Phosphoribosylpyrophosphate Degradation in Human Tissues.- Properties of the Phosphoribosylpyrophosphate-Glutamine Amidotransferase of the Human Leucemic Cells.- A Purine Auxotroph Deficient in Phosphoribosylpyrophosphate Amidotransferase and Phosphoribosylpyrophosphate Aminotransferase Activities with normal Activity of Ribose-5-phosphate Aminotransferase.- Biochemical Studies of Purine Auxotrophs of Drosophila Melanogaster.- Inosine Triphosphate Metabolism in Human Erythrocytes.- Oxypurine and 6-Thiopurine Nucleoside Triphosphate Formation in Human Erythrocytes.- Activity of Salvage Pathway in Erythrocytes of Newborn Infants, Children, and Adults.- Purine Phosphoribosyltransferase in Human Erythrocyte Ghosts.- The Localisation of the Purine Phosphoribosyl-transferase in Rat Liver Organelles.- Reversible and Irreversible Inhibition of Hypoxanthine Phosphoribosyl-transferase.- Purification and Characterization of Hypoxanthine-Guanine Phosphoribosyltransferase from Cultured HTC Cells.- Evidence for the Existence of Different Types of Metabolic Cooperation.- Stability of the Azaguanine Resistant Phenotype in Vivo.- Functioning of Purine Salvage Pathways in Escherichia Coli K-12.- Metabolism of Intravenous Adenine in the Pig.- Pattern of Purine-Nucleotide Metabolism in Hepatopancreas of Helix Pomatia (Gastropoda).- Isozymes of AMP Deaminase.- Purification of Human Erythrocyte Adenosine Deaminase.- Adenosine Deaminase: Characterization of the Molecular Heterogeneity of the Enzyme in Human Tissue.- Human 5?-Nucleotidase: Multiple Molecular Forms and Regulation.- Subcellular Distribution of Purine Degrading Enzymes in the Liver of the Carp (Cyprinus Carpio L.).- Mutations Affecting Purine Metabolism in Man.- Purine Enzyme Abnormalities: A Four Year Experience.- Fibroblast Phosphoribosylpyrophosphate and Ribose-5-phosphate Concentration and Generation in Gout with Purine Overproduction.- Familial Distribution of Increased Erythrocyte Phosphoribosylpyrophosphate Levels.- X-linked Pattern of Inheritance of Gout due to Mutant Feedback-Resistant Phosphoribosylpyrophosphate Synthetase.- Incidence of APRT Deficiency.- Complete Deficiency of Adenine Phosphoribosyl-transferase: Report of a Family.- Purine Synthesis and Excretion in Mutants of the W1-L2 Human Lymphoblastoid Line Deficient in Adenosine Kinase (AK) and Adenine Phosphoribosyl-transferase (APRT).- Partial HPRT Deficiency: Heterozygotes Exhibit One Cell Population in Intact Cell Assays.- Diminished Affinity for Purine Substrates as a Basis for Gout with Mild Deficiency of Hypoxanthine-Guanine Phosphoribosyl-transferase.- Purine and Pyrimidine Nucleotide Concentrations in Cells with Decreased Hypoxanthine-Guanine Phosphoribosyltransferase (HGPRT) Activity.- Electrophoretic Variation in Partial Deficiencies of Hypoxanthine-Guanine Phosphoribosyltransferase.- Xanthine Oxidase Activity in a Gouty Patient with Partial Deficiency of HGPRT.- Experience with Detection of Heterozygous Carrier

Weitere Details