Transcriptional correlates of the pathological phenotype in a Huntington's disease mouse model.

ABSTRACT: Huntington disease (HD) is a fatal neurodegenerative disorder without a cure that is caused by an aberrant expansion of CAG repeats in exon 1 of the huntingtin (HTT) gene. Although a negative correlation between the number of CAG repeats and the age of disease onset is established, additional factors may contribute to the high heterogeneity of the complex manifestation of symptoms among patients. This variability is also observed in mouse models, even under controlled genetic and environmental conditions. To better understand this phenomenon, we analysed the R6/1 strain in search of potential correlates between pathological motor/cognitive phenotypical traits and transcriptional alterations. HD-related genes (e.g., Penk, Plk5, Itpka), despite being downregulated across the examined brain a

SUBMITTER: Gallardo-Orihuela A 

PROVIDER: S-EPMC6904489 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature