References
Query Results -- Details
MGI Accession ID: MGI:3607744
J Number: J:102545
Other Accession IDs:
Title: A Golgi study of neuronal architecture in a genetic mouse model for Lesch-Nyhan disease.
Authors: Mikolaenko I; Rao LM; Roberts RC; Kolb B; Jinnah HA
Journal: Neurobiol Dis
Volume: 20
Issue: 2
Date: 2005 Nov
Year: 2005
Pages: 479-90
Review Status: Peer Reviewed
Abstract:
Lesch-Nyhan disease (LND) is an inherited disorder associated with deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT), an enzyme essential for purine recycling. The clinical manifestations of the disorder and several neurochemical studies have pointed towards a defect in the striatum, but histological studies of autopsied brain specimens have not revealed any consistent abnormalities. An HPRT-deficient (HPRT-) mouse that has been produced as a model for the disease also exhibits neurochemical abnormalities of the striatum without obvious histological correlates. In the current studies, Golgi-Cox histochemistry was used to evaluate the fine structure of medium spiny I neurons from the striatum in the HPRT- mice. To determine if any abnormalities might be restricted to striatal neurons, the pyramidal projection neurons of layer 5 of the cerebral cortex were also evaluated. Neurons from both regions demonstrated a normal distribution, orientation, and gross morphology. There was no evidence for an abnormal developmental process or degeneration. However, both regions demonstrated a paucity of neurons with very long dendrites and a reduction in dendritic spines that depended upon the distance from the cell body. These findings demonstrate that HPRT deficiency is associated with changes in neuronal architecture in the HPRT- mice. Similar abnormalities in the LND brain could underlie some of the clinical manifestations.
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