Gene Expression Profiling of Prion-Infected Brains: a Novel Disease Signature for Neurodegeneration in Humans

ObjectivesIn a previous study (Barbisin et al. 2014), we identified a five-gene signature able to distinguish BSE-infected macaques (Macaca fascicularis) from healthy ones: in brief, hemoglobin beta (HBB) and alpha2 (HBA2) were down-regulated in infected monkeys, whereas transthyretin (TTR), apolipoprotein C1 (APOC1) and serpin peptidase inhibitor clade A (SERPINA3) were up-regulated. The aim of the present work is to investigate whether the gene dysregulation pattern observed in macaques is also a specific gene signature for Creutzfeldt– Jakob disease (CJD) in humans compared to both healthy subjects and other neurodegenerative diseases. MethodsWe collected about 120 samples from frontal cortex of frozen brain tissue, obtained from prion-infected patients (variant (v)CJD, sporadic (s)CJD, iatrogenic (i)CJD), patients with non-CJD neurodegenerative disorders (Alzheimer’s Disease, Parkinson’s Disease, tauopathies) and age-matched controls). RNA was extracted using TRIzol with PureLink® RNA Mini Kit and on-...