Molecular pathways involved in neuronal degeneration of polyglutamine mouse models

To elucidate the pathways involved in the SCA7 retinal degeneration, we used DNA GeneChips and compared the gene expression profiles of the mutant mice (R7E) and the control ones (R7N). We performed these experiments at the onset stage of the disease (3w) as well as on the moderate one (9w) in order to correlate the transcriptional deregulations with the phenotype progression. We also compared the R6/2 mice vs wild type (wt) ones to identify between the deregulated transcripts the ones that were also differentially expressed in the R7E vs R7N mice. These common changes are likely caused by polyQ expansion independently of the protein context. Keywords: Polyglutamine disorders, Spinocerebellar ataxia type 7 (SCA7), Huntington’s disease (HD), Neuronal dysfunction, Retinal degeneration Retina RNA was prepared from 4-6 animals from each mouse line. Each RNA sample was independently hybridized on a different Genehip.