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Comparative Study
. 2009 Jun;24(2):311-9.
doi: 10.1007/s11011-009-9134-9. Epub 2009 Mar 25.

NAD metabolism in HPRT-deficient mice

Vanna Micheli  1 , Gabriella Jacomelli, Federica Di Marcello, Laura Notarantonio, Silvia Sestini, Barbara Cerboni, Matteo Bertelli, Giuseppe Pompucci, Hyder A Jinnah
Affiliations
Comparative Study

NAD metabolism in HPRT-deficient mice

Vanna Micheli et al. Metab Brain Dis. 2009 Jun.

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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