Gene therapy in Aβ-induced cell and mouse models of Alzheimer's disease through compensating defective mitochondrial complex I function

J Transl Med. 2024 Aug 14;22(1):760. doi: 10.1186/s12967-024-05571-3.

Abstract

Background: Alzheimer's disease (AD) is the most common neurogenerative disorder without effective treatments. Defects in mitochondrial complex I are thought to contribute to AD pathogenesis. The aim of this study is to explore whether a novel gene therapy transducing yeast complex I gene NDI1 can be used to treat AD with severely reduced complex I function in cell and animal models.

Methods: The differentiated human neural cells were induced by Aβ1-42 to establish the AD cell model, and adeno-associated virus serotype 9 (AAV9) was used to transduce yeast NDI1 into the cell model. Aβ1-42 was injected into the hippocampus area of the brain to establish the AD mouse model. AAV9-NDI1 was injected stereotaxically into the hippocampus area to test the therapeutic effect.

Results: The expressed yeast complex I had an ameliorating effect on the defective function of human complex I and cellular pathological characteristics in the AD cell model. Furthermore, AAV9-NDI1 gene therapy in the hippocampus had a therapeutic effect on various aspects of mitochondrial function, histopathological characteristics and neurological defects in the AD mouse model. In addition, AAV9-NDI1 injection into the hippocampus of normal mice did not cause any adverse effect.

Conclusions: Compensating mitochondrial complex I function with yeast NDI1 is effective for gene therapy in Aβ-induced AD cell and mouse models. The results of this study offer a novel strategy and approach for treating AD types characterized by complex I abnormalities.

Keywords: Alzheimer’s disease; Gene therapy; Mitochondrial dysfunction; Recombinant adeno-associated virus; Respiratory chain complex I.

MeSH terms

  • Alzheimer Disease* / genetics
  • Alzheimer Disease* / pathology
  • Alzheimer Disease* / therapy
  • Amyloid beta-Peptides* / metabolism
  • Animals
  • Dependovirus / genetics
  • Disease Models, Animal*
  • Electron Transport Complex I* / genetics
  • Electron Transport Complex I* / metabolism
  • Genetic Therapy*
  • Hippocampus / metabolism
  • Hippocampus / pathology
  • Humans
  • Male
  • Mice
  • Mitochondria* / metabolism
  • Neurons / metabolism
  • Neurons / pathology
  • Peptide Fragments
  • Saccharomyces cerevisiae Proteins / genetics
  • Saccharomyces cerevisiae Proteins / metabolism

Substances

  • Electron Transport Complex I
  • Amyloid beta-Peptides
  • Ndi1 protein, S cerevisiae
  • Saccharomyces cerevisiae Proteins
  • amyloid beta-protein (1-42)
  • Peptide Fragments