[PDF][PDF] Cerebellar transcriptome profiles of ATXN1 transgenic mice reveal SCA1 disease progression and protection pathways

M Ingram, EAL Wozniak, L Duvick, R Yang… - Neuron, 2016 - cell.com
M Ingram, EAL Wozniak, L Duvick, R Yang, P Bergmann, R Carson, B O'Callaghan…
Neuron, 2016cell.com
SCA1, a fatal neurodegenerative disorder, is caused by a CAG expansion encoding a
polyglutamine stretch in the protein ATXN1. We used RNA sequencing to profile cerebellar
gene expression in Pcp2-ATXN1 [82Q] mice with ataxia and progressive pathology and
Pcp2-ATXN1 [30Q] D776 animals having ataxia in absence of Purkinje cell progressive
pathology. Weighted Gene Coexpression Network Analysis of the cerebellar expression
data revealed two gene networks that significantly correlated with disease and have an …
Summary
SCA1, a fatal neurodegenerative disorder, is caused by a CAG expansion encoding a polyglutamine stretch in the protein ATXN1. We used RNA sequencing to profile cerebellar gene expression in Pcp2-ATXN1[82Q] mice with ataxia and progressive pathology and Pcp2-ATXN1[30Q]D776 animals having ataxia in absence of Purkinje cell progressive pathology. Weighted Gene Coexpression Network Analysis of the cerebellar expression data revealed two gene networks that significantly correlated with disease and have an expression profile correlating with disease progression in ATXN1[82Q] Purkinje cells. The Magenta Module provides a signature of suppressed transcriptional programs reflecting disease progression in Purkinje cells, while the Lt Yellow Module reflects transcriptional programs activated in response to disease in Purkinje cells as well as other cerebellar cell types. Furthermore, we found that upregulation of cholecystokinin (Cck) and subsequent interaction with the Cck1 receptor likely underlies the lack of progressive Purkinje cell pathology in Pcp2-ATXN1[30Q]D776 mice.
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