CEREBELLAR PURKINJE CELL LOSS IN HETEROZYGOUS RORA+/-MICE: A LONGITUDINAL STUDY - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue Journal of Neurogenetics Année : 2006

CEREBELLAR PURKINJE CELL LOSS IN HETEROZYGOUS RORA+/-MICE: A LONGITUDINAL STUDY

Résumé

The staggerer (sg/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 RORα 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 which is qualitatively normal but with advancing age suffers a significant loss of cerebellar neuronal cells. 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 RORα 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 wildtype counterparts from 1 to 24 months of age. We also compared the evolution of Purkinje cell numbers in Rora+/- and Rora+/sg males from 1 to 9 months. The main finding is that in Rora+/- mice, when only a half dose of protein is synthesized, the deficit was already established at 1 month and did not change during life span. 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 deficit was similar.
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Dates et versions

hal-00078419 , version 1 (29-06-2006)

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Mohamed Doulazmi, Francesca Capone, Florence Frederic, Joëlle Bakouche, Yolande Lemaigre-Dubreuil, et al.. CEREBELLAR PURKINJE CELL LOSS IN HETEROZYGOUS RORA+/-MICE: A LONGITUDINAL STUDY. Journal of Neurogenetics, 2006, 20, pp.1-17. ⟨hal-00078419⟩
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