Differential overexpression of SERPINA3 in human prion diseases

Sci Rep. 2017 Nov 15;7(1):15637. doi: 10.1038/s41598-017-15778-8.

Abstract

Prion diseases are fatal neurodegenerative disorders with sporadic, genetic or acquired etiologies. The molecular alterations leading to the onset and the spreading of these diseases are still unknown. In a previous work we identified a five-gene signature able to distinguish intracranially BSE-infected macaques from healthy ones, with SERPINA3 showing the most prominent dysregulation. We analyzed 128 suitable frontal cortex samples, from prion-affected patients (variant Creutzfeldt-Jakob disease (vCJD) n = 20, iatrogenic CJD (iCJD) n = 11, sporadic CJD (sCJD) n = 23, familial CJD (gCJD) n = 17, fatal familial insomnia (FFI) n = 9, Gerstmann-Sträussler-Scheinker syndrome (GSS)) n = 4), patients with Alzheimer disease (AD, n = 14) and age-matched controls (n = 30). Real Time-quantitative PCR was performed for SERPINA3 transcript, and ACTB, RPL19, GAPDH and B2M were used as reference genes. We report SERPINA3 to be strongly up-regulated in the brain of all human prion diseases, with only a mild up-regulation in AD. We show that this striking up-regulation, both at the mRNA and at the protein level, is present in all types of human prion diseases analyzed, although to a different extent for each specific disorder. Our data suggest that SERPINA3 may be involved in the pathogenesis and the progression of prion diseases, representing a valid tool for distinguishing different forms of these disorders in humans.

MeSH terms

  • Adult
  • Aged
  • Alzheimer Disease / genetics
  • Alzheimer Disease / physiopathology
  • Animals
  • Creutzfeldt-Jakob Syndrome / genetics
  • Creutzfeldt-Jakob Syndrome / physiopathology
  • Female
  • Frontal Lobe / metabolism*
  • Frontal Lobe / physiopathology
  • Gene Expression Regulation / genetics
  • Gerstmann-Straussler-Scheinker Disease / genetics
  • Gerstmann-Straussler-Scheinker Disease / physiopathology
  • Humans
  • Insomnia, Fatal Familial / genetics
  • Insomnia, Fatal Familial / physiopathology
  • Male
  • Middle Aged
  • Prion Diseases / classification
  • Prion Diseases / genetics*
  • Prion Diseases / physiopathology
  • Prions / genetics*
  • Ribosomal Proteins / genetics
  • Serpins / genetics*

Substances

  • Prions
  • RPL19 protein, human
  • Ribosomal Proteins
  • SERPINA3 protein, human
  • Serpins

Supplementary concepts

  • Creutzfeldt-Jakob Disease, Sporadic