Document Detail

Regulation of nicotinamide-adenine dinucleotide synthesis in erythrocytes of patients with hypoxanthine-guanine phosphoribosyltransferase deficiency and a patient with phosphoribosylpyrophosphate synthetase superactivity.
MedLine Citation:
PMID:  2155755     Owner:  NLM     Status:  MEDLINE    
1. The synthesis of nicotinamide-adenine dinucleotide from nicotinamide and nicotinic acid was compared over different time scales at both physiological (0.7 mumol/l) and high (0.2-3 mmol/l) substrate concentrations in erythrocytes from three patients with hypoxanthine-guanine phosphoribosyltransferase (hypoxanthine phosphoribosyltransferase, EC deficiency (including one Lesch-Nyhan patient) and from one patient with phosphoribosylpyrophosphate synthetase superactivity. The above disorders are associated with grossly altered erythrocyte nicotinamide-adenine dinucleotide levels. 2. At the physiological substrate concentration and incubation times up to 2 h, nicotinamide proved the most efficient nicotinamide-adenine dinucleotide precursor for erythrocytes from both patients and control subjects. The conversion of nicotinamide to its mononucleotide, but not further metabolism, was impaired in phosphoribosylpyrophosphate synthetase-mutant cells. The Lesch-Nyhan and phosphoribosylpyrophosphate synthetase-mutant cells were unusual in that both showed no further stimulation of nucleotide synthesis at 18 mmol/l Pi compared with 1 mmol/l. 3. At the high substrate concentrations, using 18 mmol/l Pi, nicotinamide was a poor precursor in all instances. Using nicotinic acid, nucleotide formation was 30-fold that from nicotinamide, reaching its maximum at 0.2 mmol/l. Conversion of nicotinic acid to nicotinamide-adenine dinucleotide in the phosphoribosylpyrophosphate synthetase-mutant cells was again grossly impaired. 4. There was no evidence for increased nicotinamide-adenine dinucleotide breakdown in the phosphoribosylpyrophosphate synthetase-mutant cells under any of the above conditions.(ABSTRACT TRUNCATED AT 250 WORDS)
V Micheli; H A Simmonds; C Ricci
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Clinical science (London, England : 1979)     Volume:  78     ISSN:  0143-5221     ISO Abbreviation:  Clin. Sci.     Publication Date:  1990 Feb 
Date Detail:
Created Date:  1990-04-26     Completed Date:  1990-04-26     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7905731     Medline TA:  Clin Sci (Lond)     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  239-45     Citation Subset:  IM    
Istituto di Chimica Biologica, Universita' di Siena, Italy.
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MeSH Terms
Cells, Cultured
Chromatography, High Pressure Liquid
Erythrocytes / metabolism*
Hypoxanthine Phosphoribosyltransferase / deficiency*
Lesch-Nyhan Syndrome / metabolism
Metabolism, Inborn Errors / metabolism*
NAD / biosynthesis*
Niacinamide / metabolism
Nicotinic Acids / metabolism
Phosphotransferases / metabolism*
Ribose-Phosphate Pyrophosphokinase / metabolism*
Reg. No./Substance:
0/Nicotinic Acids; 53-84-9/NAD; 98-92-0/Niacinamide; EC Phosphoribosyltransferase; EC 2.7.-/Phosphotransferases; EC Pyrophosphokinase

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