Simultaneous determination of purine and pyrimidine metabolites in HPRT-deficient cell lines.
Nucleosides Nucleotides Nucleic Acids
; 30(12): 1256-9, 2011 Dec.
Article
in En
| MEDLINE
| ID: mdl-22132983
ABSTRACT
Genetic mutations in the purine salvage enzyme, hypoxanthine-guanine phosphoribosyltransferase (HPRT), are known to cause Lesch-Nyhan syndrome and Kelley-Seegmiller syndrome. In patients, purine metabolism is different from that of normal persons. We have previously developed a method for simultaneously determining the concentration of purine and pyrimidine nucleosides and nucleotides. This system was applied to determine the concentrations of nucleosides and nucleotides in HPRT-deficient cell lines. The amount of inosine 5'-monophosphate (IMP) was different in Lesch-Nyhan syndrome, Kelley-Seegmiller syndrome, and control cell lines. The difference in the amount of IMP confirmed the mutation of the enzyme.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Purines
/
Pyrimidines
/
Hypoxanthine Phosphoribosyltransferase
Limits:
Humans
Language:
En
Journal:
Nucleosides Nucleotides Nucleic Acids
Journal subject:
BIOQUIMICA
Year:
2011
Document type:
Article
Affiliation country:
Japón