According to this paper, a mutation in the PSEN1 gene was found, which alters the function of gamma secretase, and is a known cause of young onset Alzheimer's disease.
Furthermore mice that are in addition engineered to convert oligomers into plaques (APPE693Q X PS1ΔE9), are no more impaired than the oligomer only mice.
The structure of presenilin-1 is still controversial, although recent research has produced a more widely accepted model.
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When first discovered, the PSEN1 gene was subjected to hydrophobicity analysis that predicted that the protein would contain ten trans-membrane domains.
PSEN1 |