A APP Mutations

There are two categories of mutations in APP that lead to early-onset familial AD (see Figure 3). One is the so-called "Swedish double mutation," named for the Swedish kindred in which it was first identified. The Swedish mutation is a K670M, N671L double mutation in the APP gene (52, 53). This double mutation results in higher levels of secreted Ap peptides in the CNS. The second type of AD-associated APP mutations results in a higher fraction of the longer Ap peptides being produced. These are the missense mutations at residue 717 in the APP gene (38, 53, 54). Both categories of mutations affect the endopro-teolytic cleavage pattern during APP processing, promoting the p- and y-secretase cleavage activities over the a-secretase (55, 56). A final type of APP mutation, commonly referred to as the "Dutch" type of mutation, does not cause AD per se. These are mutations in and around amino acid 693 in the APP sequence. These mutations also elicit overproduction of amyloid but result in variations a syndrome known as Dutch-type hereditary cerebral hemorrhage with amyloidosis, a vascular disorder.

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