Basal ganglia dopamine loss due to defect in purine recycling

Kiyoshi Egami, Silaja Yitta, Suhail Kasim, J. Chris Lewers, Rosalinda C. Roberts, Mohamed Lehar, H. A. Jinnah

Research output: Contribution to journalArticlepeer-review

31 Scopus citations


Several rare inherited disorders have provided valuable experiments of nature highlighting specific biological processes of particular importance to the survival or function of midbrain dopamine neurons. In both humans and mice, deficiency of hypoxanthine-guanine phosphoribosyl transferase (HPRT) is associated with profound loss of striatal dopamine, with relative preservation of other neurotransmitters. In the current studies of knockout mice, no morphological signs of abnormal development or degeneration were found in an exhaustive battery that included stereological and morphometric measures of midbrain dopamine neurons, electron microscopic studies of striatal axons and terminals, and stains for degeneration or gliosis. A novel culture model involving HPRT-deficient dopaminergic neurons also exhibited significant loss of dopamine without a morphological correlate. These results suggest that dopamine loss in HPRT deficiency has a biochemical rather than anatomical basis and imply that purine recycling to be a biochemical process of particular importance to the function of dopaminergic neurons.

Original languageEnglish (US)
Pages (from-to)396-407
Number of pages12
JournalNeurobiology of Disease
Issue number2
StatePublished - May 2007

ASJC Scopus subject areas

  • Neurology


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