Spontaneous Neurodegeneration in Transgenic Mice with Mutant Prion Protein

作者：Karen Hsiao, Michael Scott, DALLAS B. FOSTER, Darlene Groth, Stephen J. DeArmond, Stanley B. Prusiner · 发表于：Science · 年份：1990 · DOI：10.1126/science.1980379 · 被引用次数：531 · 研究领域：Prion Diseases and Protein Misfolding、Neurological diseases and metabolism、Trace Elements in Health

Transgenic mice were created to assess genetic linkage between Gerstmann-Sträussler-Scheinker syndrome and a leucine substitution at codon 102 of the human prion protein gene. Spontaneous neurologic disease with spongiform degeneration and gliosis similar to that in mouse scrapie developed at a mean age of 166 days in 35 mice expressing mouse prion protein with the leucine substitution. Thus, many of the clinical and pathological features of Gerstmann-Sträussler-Scheinker syndrome are reproduced in transgenic mice containing a prion protein with a single amino acid substitution, illustrating that a neurodegenerative process similar to a human disease can be genetically modeled in animals.