Simultaneous Determination of Purine and Pyrimidine Metabolites in Hprt-Deficient Cell Lines |
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Authors: | N Yamaoka K Inazawa S Inagawa M Yasuda K Mawatari K Nakagomi |
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Institution: | Department of Analytical Chemistry, School of Pharmaceutical Sciences , Teikyo University , Kanagawa, Japan |
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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. |
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Keywords: | Purine pyrimidine nucleosides nucleotides LC-MS HPRT-deficient cell line |
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