Alzheimer's presenilin 1 causes chromosome missegregation and aneuploidy

@article{Boeras2008AlzheimersP1,
  title={Alzheimer's presenilin 1 causes chromosome missegregation and aneuploidy},
  author={Debrah I Boeras and Antoneta Granic and Jaya Padmanabhan and Nichole C Crespo and Huntington Potter},
  journal={Neurobiology of Aging},
  year={2008},
  volume={29},
  pages={319-328}
}
Mutations in the presenilin 1 gene cause most early onset familial Alzheimer's disease (FAD). Here, we report that a defect in the cell cycle - improper chromosome segregation - can be caused by abnormal presenilin function and therefore may contribute to AD pathogenesis. Specifically we find that either over-expression or FAD mutation in presenilin 1 (M146L and M146V) leads to chromosome missegregation and aneuploidy in vivo and in vitro: (1) Up to 20% of lymphocytes and neurons of FAD-PS-1… CONTINUE READING

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