A Golgi study of neuronal architecture in a genetic mouse model for Lesch-Nyhan disease

Neurobiol Dis. 2005 Nov;20(2):479-90. doi: 10.1016/j.nbd.2005.04.005.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Cell Shape / genetics
  • Cerebral Cortex / metabolism
  • Cerebral Cortex / pathology*
  • Cerebral Cortex / ultrastructure
  • Corpus Striatum / metabolism
  • Corpus Striatum / pathology*
  • Corpus Striatum / ultrastructure
  • Dendritic Spines / metabolism
  • Dendritic Spines / pathology
  • Dendritic Spines / ultrastructure
  • Disease Models, Animal
  • Female
  • Hypoxanthine Phosphoribosyltransferase / genetics*
  • Image Cytometry
  • Lesch-Nyhan Syndrome / genetics
  • Lesch-Nyhan Syndrome / metabolism
  • Lesch-Nyhan Syndrome / pathology*
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Microscopy, Electron, Transmission
  • Neurons / metabolism
  • Neurons / pathology*
  • Neurons / ultrastructure
  • Silver Staining

Substances

  • Hypoxanthine Phosphoribosyltransferase