Deciphering the mechanism underlying late-onset Alzheimer disease

Nat Rev Neurol. 2013 Jan;9(1):25-34. doi: 10.1038/nrneurol.2012.236. Epub 2012 Nov 27.

Abstract

Despite tremendous investments in understanding the complex molecular mechanisms underlying Alzheimer disease (AD), recent clinical trials have failed to show efficacy. A potential problem underlying these failures is the assumption that the molecular mechanism mediating the genetically determined form of the disease is identical to the one resulting in late-onset AD. Here, we integrate experimental evidence outside the 'spotlight' of the genetic drivers of amyloid-β (Aβ) generation published during the past two decades, and present a mechanistic explanation for the pathophysiological changes that characterize late-onset AD. We propose that chronic inflammatory conditions cause dysregulation of mechanisms to clear misfolded or damaged neuronal proteins that accumulate with age, and concomitantly lead to tau-associated impairments of axonal integrity and transport. Such changes have several neuropathological consequences: focal accumulation of mitochondria, resulting in metabolic impairments; induction of axonal swelling and leakage, followed by destabilization of synaptic contacts; deposition of amyloid precursor protein in swollen neurites, and generation of aggregation-prone peptides; further tau hyperphosphorylation, ultimately resulting in neurofibrillary tangle formation and neuronal death. The proposed sequence of events provides a link between Aβ and tau-related neuropathology, and underscores the concept that degenerating neurites represent a cause rather than a consequence of Aβ accumulation in late-onset AD.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Aged
  • Alzheimer Disease / diagnosis*
  • Alzheimer Disease / genetics*
  • Alzheimer Disease / pathology
  • Alzheimer Disease / physiopathology
  • Amyloid beta-Peptides / genetics
  • Animals
  • Brain / pathology
  • Brain / physiopathology
  • Cell Death / genetics
  • Cell Death / physiology
  • Disease Models, Animal
  • Disease Progression
  • Humans
  • Inflammation Mediators / blood
  • Mice
  • Neurites / pathology
  • Neurites / physiology
  • Neurofibrillary Tangles / genetics
  • Neurofibrillary Tangles / pathology
  • Neurofibrillary Tangles / physiology
  • Proteostasis Deficiencies / diagnosis
  • Proteostasis Deficiencies / genetics
  • Proteostasis Deficiencies / pathology
  • Proteostasis Deficiencies / physiopathology
  • tau Proteins / genetics

Substances

  • Amyloid beta-Peptides
  • Inflammation Mediators
  • MAPT protein, human
  • tau Proteins