Cerebellar purkinje cell loss in heterozygous rora+/- mice: a longitudinal study

J Neurogenet. 2006 Jan-Jun;20(1-2):1-17. doi: 10.1080/01677060600685832.

Abstract

The staggerer (sg) mutation is a spontaneous deletion in the Rora gene that prevents the translation of the ligand-binding domain (LBD), leading to the loss of RORalpha activity. The homozygous Rorasg/sg mutant mouse, whose most obvious phenotype is ataxia associated with cerebellar degeneration, also displays a variety of other phenotypes. The heterozygous Rora+/sg is able to develop a cerebellum that is qualitatively normal but which suffers a significant loss of cerebellar neuronal cells with advancing age. A truncated protein synthesized by the mutated allele may play a role both in Rorasg/sg and Rora+/sg. To determine the effects during life span of true haplo-insufficiency of the RORalpha protein, derived from the invalidation of the gene, we compared the evolution of Purkinje cell numbers in heterozygous Rora knock-out males (Rora+/-) and in their wild-type counterparts from 1 to 24 months of age. We also compared the evolution of Purkinje cell (PC) numbers in Rora+/- and Rora+/sg males from 1 to 9 months. The main finding is that in Rora+/- mice, for which only one-half the normal amount of protein is produced, the deficit was established as early as 1 month and did not change during the animals' adult lifespans. Thus, the effects of aging on PC number were apparent much earlier in Rora+/- than in Rora+/sg, although at 24 months of age the degrees of deficit were similar.

MeSH terms

  • Aging / genetics
  • Animals
  • Cell Count
  • Cell Death / genetics
  • Cell Size
  • Female
  • Genotype
  • Heterozygote
  • Immunohistochemistry / methods
  • Longitudinal Studies
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Nuclear Receptor Subfamily 1, Group F, Member 1
  • Purkinje Cells / cytology*
  • Receptors, Cytoplasmic and Nuclear / genetics*
  • Receptors, Retinoic Acid / genetics
  • Trans-Activators / genetics*

Substances

  • Nuclear Receptor Subfamily 1, Group F, Member 1
  • Receptors, Cytoplasmic and Nuclear
  • Receptors, Retinoic Acid
  • Rora protein, mouse
  • Trans-Activators