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Presenilin-1-dependent transcriptome changes.

Károly Mirnics1, Zeljka Korade, Dominique Arion

  • 1Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15261, USA. karoly+@pitt.edu

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
|February 11, 2005
PubMed
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Familial Alzheimer's disease (FAD) involves mutant presenilin (PS) genes. This study found that FAD-linked PS1 variants alter brain gene expression through aberrant function, influenced by amyloid precursor protein (APP).

Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Familial Alzheimer's disease (FAD) is linked to mutations in presenilin 1 (PS1) or presenilin 2 genes.
  • Understanding the molecular mechanisms of FAD is crucial for developing effective treatments.

Purpose of the Study:

  • To investigate the brain transcription profiles in mouse models of FAD.
  • To compare gene expression changes caused by mutant PS1 and wild-type PS1, and explore the role of amyloid precursor protein (APP).

Main Methods:

  • DNA microarrays were used to analyze brain transcription profiles.
  • Conditional knock-out (cKO) PS1 mice and FAD-linked DeltaE9 mutant transgenic (TG) mice expressing human PS1 (hPS1) were studied.
  • Transcriptome data from TG and cKO mice were cross-compared.

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Main Results:

  • A majority of common gene expression alterations between TG and cKO mice showed opposite directions, suggesting aberrant function of FAD-linked PS1.
  • An inverse correlation in transcript levels was observed between mice co-expressing DeltaE9 hPS1 with APP695 Swe and those with DeltaE9 hPS1 alone.
  • These findings indicate that APP and/or its derivatives influence transcript level changes.

Conclusions:

  • Mutant PS1 in FAD primarily causes transcriptome changes via gain of aberrant function.
  • Amyloid precursor protein (APP) significantly modulates the transcriptomic alterations associated with PS1 mutations in FAD models.