Beta-amyloid precursor protein and early-onset Alzheimer's disease.
One of the major pathological hallmarks of Alzheimer's disease is the deposition in the brain parenchyma and cerebral blood vessel walls of amyloid beta-protein, a 4kDa proteolytic product of the longer beta-amyloid precursor protein (APP). Six different single base mutations in the APP gene have been reported causing early-onset Alzheimer's disease (age at onset < or = 65 years) or related amyloidosis in a small number of families. Cell transfection experiments using wild-type and mutant APP cDNA indicated that APP mutations result in the production of more or longer, aggregation prone, A beta peptides.
Born-Bunge Foundation, University of Antwerp, Department of Biochemistry, Belgium.
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Hendriks
Jonghe CDXs
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Cras
J J
JJ
Martin
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CV
Broeckhoven
D000544:Alzheimer Disease / Q000235:genetics / Q000378:metabolism* / Q000503:physiopathology; D000595:Amino Acid Sequence; D016564:Amyloid beta-Protein Precursor / Q000235:genetics* / Q000378:metabolism*; D000686:Amyloidosis / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D001921:Brain / Q000098:blood supply / Q000378:metabolism; D002560:Cerebrovascular Circulation; D004314:Down Syndrome / Q000378:metabolism; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation
D016564:Amyloid beta-Protein Precursor