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Basic Science and Pathogenesis.

Myuri Ruthirakuhan1,2,3, Yuen Yan Wong1,2,3, Sofia Perfetto1

  • 1University of Toronto, Toronto, ON, Canada.

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Summary
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Genetic variants in the CYP46A1 gene, influencing brain cholesterol metabolism, are linked to Alzheimer's disease markers and increased dementia risk. These findings highlight brain cholesterol's role in cognitive decline and suggest potential therapeutic targets.

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Area of Science:

  • Neuroscience
  • Genetics
  • Metabolic disorders

Background:

  • Brain cholesterol metabolism is crucial for neuronal health, with CYP46A1 encoding cholesterol 24-hydroxylase.
  • CYP46A1 variants (rs3742376, rs4900442, rs7157609, rs754203) are linked to altered 24S-hydroxycholesterol (24S-HOC) levels.
  • The association between CYP46A1 variants, Alzheimer's disease (AD) markers, cognitive function, and dementia risk remains unclear.

Purpose of the Study:

  • To investigate the association between CYP46A1 variants and AD biomarkers, cognitive function, and dementia risk.
  • To explore the role of brain cholesterol metabolism in AD pathophysiology and cognitive decline.
  • To identify potential targets for preventative and therapeutic strategies in dementia.

Main Methods:

  • Utilized Alzheimer's Disease Neuroimaging Initiative (ADNI) and UK Biobank (UKB) datasets.
  • Conducted candidate gene association studies using four CYP46A1 variants.
  • Employed linear regressions for AD markers and cognition (ADNI), and Cox proportional hazards models for dementia risk (UKB).

Main Results:

  • In ADNI, CYP46A1 minor variants correlated with lower amyloid-beta, higher p-tau, and higher neurofilament light (NfL).
  • These variants were associated with poorer cognitive performance in language, memory, and executive function among cognitively normal individuals.
  • In UKB, the rs4900442 minor allele was linked to a 17% increased 15-year dementia risk.

Conclusions:

  • CYP46A1 variants influence AD pathophysiology, cognitive function, and dementia risk.
  • Brain cholesterol metabolism is implicated in cognitive decline and neurodegenerative processes.
  • These findings suggest brain cholesterol metabolism as a potential therapeutic target for dementia prevention and treatment.