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Area of Science:

  • Neurogenetics
  • Molecular Biology
  • Biochemistry

Background:

  • Alzheimer disease (AD) risk is associated with certain adenosine triphosphate-binding cassette, subfamily A member 7 (ABCA7) mutations.
  • The precise mechanism by which these ABCA7 variants contribute to AD pathogenesis remains unclear, with loss-of-function (LOF) being a putative explanation.

Purpose of the Study:

  • To investigate and characterize putative LOF ABCA7 mutations previously linked to AD risk.
  • To assess the mutational burden of these variants across different neurological conditions.

Main Methods:

  • Genotyping of 6 previously reported ABCA7 putative LOF variants in 1,465 AD patients, 381 non-AD neuropathology patients, and 1,043 controls.
  • Measurement of brain ABCA7 protein and messenger RNA (mRNA) levels in carriers of common variants.
  • Sequencing of all ABCA7 exons to identify additional coding variants.

Main Results:

  • At least one variant was found in 45 AD patients, 12 non-AD patients, and 11 controls.
  • A significantly higher burden of these ABCA7 variants was observed in AD (p = 5.00E-04) and non-AD neuropathology groups (p = 8.60E-03) compared to controls.
  • Differential effects on ABCA7 protein and mRNA levels were observed in variant carriers, indicating complex molecular consequences.

Conclusions:

  • The results suggest that LOF may not be the predominant mechanism for the investigated ABCA7 variants.
  • These findings expand the spectrum of neurological diseases associated with ABCA7 variants.