PrP gene dosage determines the timing but not the final intensity or distribution of lesions in scrapie pathology

Neurodegeneration. 1994 Dec;3(4):331-40.

Abstract

We have produced by gene targeting a mouse line with an inactive PrP gene. In animals heterozygous for this mutation, PrP mRNA is reduced by approximately 50% throughout the brain compared with wild type mice. The steady-state level of PrPc is also significantly reduced in heterozygotes compared to wild type mice. PrP mRNA and protein are not detected in brains of mice homozygous for the mutation. We have infected wild type mice and mice heterozygous and homozygous for the mutation with the ME7 strain of scrapie. A gene dosage effect can be seen in time of disease onset and period over which the disease symptoms develop. In heterozygotes disease onset occurs around 220 days and terminal stages are reached by 280 days. In wild type mice disease onset occurs around 130 days and the terminal stages by 160 days. The PrP-/- mice are resistant to disease up to 475 days. PrP deposition in heterozygous mice starts in the same brain area as wild type mice and can be detected as early as 50 days. The pattern of PrP deposition in the brain of heterozygotes follows an identical course to that observed in wild type mice and by terminal stages of disease the amount deposited is equivalent to wild type mice. Vacuolation is detected later than PrP deposition and distribution and degree in the terminal stages of disease is similar in wild type and heterozygous mice. These results show that signs of disease, vacuolation and PrP deposition are dependent upon PrPc in a rate dependent manner.

MeSH terms

  • Alleles
  • Animals
  • Gene Dosage*
  • Heterozygote
  • Mice
  • Mice, Neurologic Mutants
  • Phenotype
  • PrPSc Proteins / genetics*
  • RNA, Messenger / biosynthesis
  • Scrapie / genetics*
  • Scrapie / pathology
  • Time Factors

Substances

  • PrPSc Proteins
  • RNA, Messenger