Spinocerebellar Ataxias study with RNA-Seq data on dbGaP (11 participants)

phs003759 — Dysregulation of Alternative Splicing Is a Transcriptomic Feature of    Patient Derived Fibroblasts From CAG Repeat Expansion Spinocerebellar    Ataxias

<p>The aim of this study was to characterize transcriptomic changes in patient-derived cell lines of CAG repeat expansion spinocerebellar ataxias (SCAs), using RNA-sequencing (RNA-Seq), to help us better understand disease pathogenesis. The data consists of two SCA1, two SCA3, and one SCA7 cell lines with 5 unaffected controls. Widespread alternative splicing dysregulation was identified across all SCA cell lines. Alternative splicing analysis also revealed that the dysregulation affected disease-relevant pathways with novel skipped-exon splicing events from the RNA-Seq data validated with RT-PCR. These findings are consistent with a previous study that identified robust transcriptomic dysregulation, specifically at the splicing level, in SCA1, -3, and -7 mouse models even at presymptomatic ages. Therefore, alternative splicing has the potential to be used as a biomarker not only in mouse models, but also patient models of repeat expansion SCAs. </p>

Dysregulation of Alternative Splicing Is a Transcriptomic Feature of    Patient Derived Fibroblasts From CAG Repeat Expansion Spinocerebellar    Ataxias