Familial Alzheimer’s disease — established mutations in the amyloid precursor protein
A number of genetic mutations have been identified within the amyloid precursor protein (APP) in various families with Alzheimer's disease. In the 'Swedish' family, there is a double mutation at position 670/671, close to the β-secretase cleavage site. This mutation selectively increases the formation of β-amyloid, the principal component of neuritic plaques. Mutations at position 692 and 693, the Flemish and Dutch mutations, which lie close to the α-secretase cleavage site, result in hereditary cerebral haemorrhage with amyloidosis and/or Alzheimer's disease. Mutations at the δ-secretase cleavage site (716/717) also selectively increase the formation of β-amyloid.
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References
Nature 1992;360:672–674.
Science 1994;264:1336–1340