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Basic Science and Pathogenesis.

Mark Sands1, Bruno A Benitez2, Clare E Wallace3

  • 1Washington University School of Medicine, Elberton, GA, USA.

Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|December 23, 2025

View abstract on PubMed

Summary
This summary is machine-generated.

Lysosomal enzyme gene haploinsufficiency is linked to Alzheimer's disease (AD). Gene therapy targeting these enzymes shows promise in reducing amyloid-beta burden and improving cognitive function in AD models.

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Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Lysosome dysfunction is implicated in Alzheimer's disease (AD), but the specific pathogenic mechanisms remain unclear.
  • This study investigates the role of lysosomal enzyme gene haploinsufficiency in AD pathogenesis.
  • The potential of adeno-associated virus (AAV)-mediated gene transfer for treating AD is explored.

Purpose of the Study:

  • To determine if haploinsufficiency of lysosomal enzymes is associated with Alzheimer's disease.
  • To investigate the therapeutic potential of CNS-directed AAV-mediated gene transfer for AD.
  • To explore the impact of specific lysosomal enzyme gene heterozygosity on amyloid pathology.

Main Methods:

  • Genetic analysis of lysosomal enzyme genes in AD patients.
  • Proteomic analysis of brain tissue to identify activated pathways.
  • Murine models (PPT1 deficient and 5xFAD mice) to study gene dosage effects on amyloid-beta (Aβ) pathology.
  • AAV-mediated gene therapy in mouse models of AD.

    • Main Results:

    • Heterozygous mutations in lysosomal enzyme genes are enriched in AD patients.
    • The lysosomal storage disease pathway is activated in AD brains.
    • PPT1 heterozygosity in mice alters secretase activity, increases Aβ plaques and burden, and reduces lifespan.
    • AAV gene therapy in 5xFAD/PPT1+/- mice reduced Aβ burden, extended lifespan, and improved cognition.
    • Similar effects on Aβ pathology were observed for heterozygosity of NAGLU, GALC, IDUA, and GUSB genes.

    Conclusions:

    • Heterozygosity of at least five lysosomal enzyme genes is strongly implicated in AD development.
    • These lysosomal enzyme genes represent potential therapeutic targets for genetically defined forms of AD.