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01-06-2009 | Original Paper

NAD metabolism in HPRT-deficient mice

Authors: Vanna Micheli, Gabriella Jacomelli, Federica Di Marcello, Laura Notarantonio, Silvia Sestini, Barbara Cerboni, Matteo Bertelli, Giuseppe Pompucci, Hyder A. Jinnah

Published in: Metabolic Brain Disease | Issue 2/2009

Abstract

The activity of hypoxanthine-guanine phosphoribosyltransferase (HPRT) is virtually absent in Lesch-Nyhan disease (LND), an X-linked genetic disorder characterized by uric acid accumulation and neurodevelopmental dysfunction. The biochemical basis for the neurological and behavioral abnormalities have not yet been completely explained. Prior studies of cells from affected patients have shown abnormalities of NAD metabolism. In the current studies, NAD metabolism was evaluated in HPRT gene knock-out mice. NAD content and the activities of the enzymes required for synthesis and breakdown of this coenzyme were investigated in blood, brain and liver of HPRT^- and control mice. NAD concentration and enzyme activities were found to be significantly increased in liver, but not in brain or blood of the HPRT^- mice. These results demonstrate that changes in NAD metabolism occur in response to HPRT deficiency depending on both species and tissue type.

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Title: NAD metabolism in HPRT-deficient mice
Authors: Vanna Micheli
Gabriella Jacomelli
Federica Di Marcello
Laura Notarantonio
Silvia Sestini
Barbara Cerboni
Matteo Bertelli
Giuseppe Pompucci
Hyder A. Jinnah
Publication date: 01-06-2009
Publisher: Springer US
Published in: Metabolic Brain Disease / Issue 2/2009
Print ISSN: 0885-7490
Electronic ISSN: 1573-7365
DOI: https://doi.org/10.1007/s11011-009-9134-9

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NAD metabolism in HPRT-deficient mice

Abstract

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Abstract

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