The discovery of Alzheimer-causing mutations in the APP gene and the formulation of the "amyloid cascade hypothesis"

FEBS J. 2017 Apr;284(7):1040-1044. doi: 10.1111/febs.14004.

Abstract

The cloning of APP and genetic analysis of families with Alzheimer's disease were both reported in 1987 and much present work on the disease is based upon the foundations laid at that time. Progress was not smooth, however, and many errors were made. In this memoir, I lay out both the progress and the errors.

Keywords: APP; Alzheimer's disease; Down syndrome; amyloid; genetics.

Publication types

  • Historical Article
  • Review

MeSH terms

  • Alzheimer Disease / diagnosis
  • Alzheimer Disease / genetics*
  • Alzheimer Disease / history
  • Alzheimer Disease / pathology
  • Amyloid beta-Protein Precursor / genetics*
  • Artifacts
  • Chromosomes, Human, Pair 21 / chemistry*
  • Down Syndrome / diagnosis
  • Down Syndrome / genetics*
  • Down Syndrome / history
  • Down Syndrome / pathology
  • Gene Duplication
  • Gene Expression
  • Genetic Markers
  • History, 20th Century
  • Humans

Substances

  • APP protein, human
  • Amyloid beta-Protein Precursor
  • Genetic Markers