Gout and the regulation of purine biosynthesis. 1976

M S Hershfield, and J E Seegmiller

Overproduction of purine nucleotides de novo is the cause of hyperuricemia in a substantial portion of the gouty population. Specific enzyme abnormalities--deficiency of hypoxanthine-guanine phosphoribosyltransferase (an enzyme of the purine "salvage" pathway) and overactivity of 5- phosphoribosyl-1-pyrophosphate (PP-ribose-P) synthetase--result in hyperuricemia, and are associated with increased de novo purine synthesis and increased intracellular concentrations of PP-ribose-P. The latter is a common substrate for the first enzyme of the de novo pathway (phosphoribosyl amidotransferase) and the purine base salvage enzymes. Studies in cultured cells from patients, and in mutant cells derived from normal cell lines in vitro, suggest that elevated intracellular PP-ribose-P concentrations may increase the rate of de novo purine biosynthesis. This regulation can be explained in terms of the normal intracellular concentration of PP-ribose-P which is lower tthan the Km for the amidotransferase, and by allosteric activation of this enzyme by PP-ribose-P. Feedback inhibition of the first step in the de novo pathway by exogenous purines can be explained either by end-product (nucleotide) inhibition of the amidotransferase, or by competition for PP-ribose-P by the salvage enzymes which have lower Km's for this substrate, or by a combination of these effects. Evidence for and against these mechanisms is discussed. Evidence is presented which suggests that exogenous purines exert a feedback effect, not only on the first step of the de novo pathway, but also at the distal branch point in the pathway. Several potential regulatory mechanisms which might lead to excessive production of uric acid are discussed.

UI MeSH Term Description Entries
D007042 Hypoxanthines Purine bases related to hypoxanthine, an intermediate product of uric acid synthesis and a breakdown product of adenine catabolism.
D007700 Kinetics The rate dynamics in chemical or physical systems.
D010754 Phosphoribosyl Pyrophosphate The key substance in the biosynthesis of histidine, tryptophan, and purine and pyrimidine nucleotides. Pyrophosphate, Phosphoribosyl
D011685 Purine Nucleotides Purines attached to a RIBOSE and a phosphate that can polymerize to form DNA and RNA. Nucleotides, Purine
D011687 Purines A series of heterocyclic compounds that are variously substituted in nature and are known also as purine bases. They include ADENINE and GUANINE, constituents of nucleic acids, as well as many alkaloids such as CAFFEINE and THEOPHYLLINE. Uric acid is the metabolic end product of purine metabolism.
D002460 Cell Line Established cell cultures that have the potential to propagate indefinitely. Cell Lines,Line, Cell,Lines, Cell
D006073 Gout Metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of URIC ACID calculi. Gouts
D006147 Guanine
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000225 Adenine A purine base and a fundamental unit of ADENINE NUCLEOTIDES. Vitamin B 4,4, Vitamin B,B 4, Vitamin

Related Publications

M S Hershfield, and J E Seegmiller
January 1984, Advances in experimental medicine and biology,
M S Hershfield, and J E Seegmiller
June 1978, Clinical science and molecular medicine,
M S Hershfield, and J E Seegmiller
January 1984, Advances in experimental medicine and biology,
M S Hershfield, and J E Seegmiller
January 1976, Advances in enzyme regulation,
M S Hershfield, and J E Seegmiller
October 1965, Arthritis and rheumatism,
M S Hershfield, and J E Seegmiller
November 1982, The Journal of biological chemistry,
M S Hershfield, and J E Seegmiller
April 1980, Biochimica et biophysica acta,
M S Hershfield, and J E Seegmiller
January 1985, The Italian journal of biochemistry,
M S Hershfield, and J E Seegmiller
November 2006, Biochemical Society transactions,
M S Hershfield, and J E Seegmiller
January 1977, Ciba Foundation symposium,
Copied contents to your clipboard!