Modeling late-onset Alzheimer's disease neuropathology via direct neuronal reprogramming

Science. 2024 Aug 2;385(6708):adl2992. doi: 10.1126/science.adl2992. Epub 2024 Aug 2.

Abstract

Late-onset Alzheimer's disease (LOAD) is the most common form of Alzheimer's disease (AD). However, modeling sporadic LOAD that endogenously captures hallmark neuronal pathologies such as amyloid-β (Aβ) deposition, tau tangles, and neuronal loss remains an unmet need. We demonstrate that neurons generated by microRNA (miRNA)-based direct reprogramming of fibroblasts from individuals affected by autosomal dominant AD (ADAD) and LOAD in a three-dimensional environment effectively recapitulate key neuropathological features of AD. Reprogrammed LOAD neurons exhibit Aβ-dependent neurodegeneration, and treatment with β- or γ-secretase inhibitors before (but not subsequent to) Aβ deposit formation mitigated neuronal death. Moreover inhibiting age-associated retrotransposable elements in LOAD neurons reduced both Aβ deposition and neurodegeneration. Our study underscores the efficacy of modeling late-onset neuropathology of LOAD through high-efficiency miRNA-based neuronal reprogramming.

MeSH terms

  • Alzheimer Disease* / genetics
  • Alzheimer Disease* / metabolism
  • Alzheimer Disease* / pathology
  • Amyloid Precursor Protein Secretases / antagonists & inhibitors
  • Amyloid Precursor Protein Secretases / genetics
  • Amyloid Precursor Protein Secretases / metabolism
  • Amyloid beta-Peptides* / metabolism
  • Cellular Reprogramming* / genetics
  • Fibroblasts* / metabolism
  • Fibroblasts* / pathology
  • Humans
  • MicroRNAs* / genetics
  • MicroRNAs* / metabolism
  • Neurons* / metabolism
  • Neurons* / pathology
  • Spheroids, Cellular*

Substances

  • Amyloid beta-Peptides
  • Amyloid Precursor Protein Secretases
  • MicroRNAs