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Publication : Decreased gene expression of calretinin and ryanodine receptor type 1 in tottering mice.

First Author  Cicale M Year  2002
Journal  Brain Res Bull Volume  59
Issue  1 Pages  53-8
PubMed ID  12372549 Mgi Jnum  J:102589
Mgi Id  MGI:3607811 Doi  10.1016/s0361-9230(02)00841-9
Citation  Cicale M, et al. (2002) Decreased gene expression of calretinin and ryanodine receptor type 1 in tottering mice. Brain Res Bull 59(1):53-8
abstractText  Tottering mice are a spontaneously occurring animal model of human absence epilepsy. They carry a mutation in the P/Q-type calcium channel alpha1A subunit gene which is highly expressed by cerebellar Purkinje cells. In this study, we investigated the role of calretinin and ryanodine receptor type 1 (RyR1) gene expression in the cerebellum of tottering mice. Cerebellar tissue specimens from four experimental groups were processed for in situ hybridization histochemistry (ISHH): (1) wild-type (+/+); (2) heterozygous (tg/+) and two homozygous groups; either (3) without occurrence of an episode of paroxysmal dyskinesia (tg/tg-N); or (4) after an episode of paroxysmal dyskinesia (tg/tg-P) that lasted about 45 min on average. Quantitative analysis showed a statistically significant decrease (p = 0.0001, ANOVA) of calretinin gene expression at the level of the simple lobule of the cerebellum in both homozygous groups compared to the wild-type and heterozygous groups. RyR1 was decreased in the flocculus of the cerebellum in both the tg/tg-N and tg/tg-P groups compared to wild type (p = 0.0174, ANOVA). These results suggest that calretinin gene expression, as well as other genes involved in regulation of calcium homeostasis, such as RyR1, may play a role in the biochemical functional alterations present in tottering mice.
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