Abstract
The release of amyloid-beta peptide (Abeta) from beta-amyloid precursor protein (APP) requires cleavage by beta- and gamma-secretases. Several groups have identified a candidate for the beta-site APP-cleaving enzyme, BACE1, and its homologue BACE2. We sequenced the genes for BACE1 and BACE2 and found several polymorphisms in both genes. Genotyping a large cohort of AD cases and controls has shown no association between AD and the intronic polymorphism in BACE2 while there was a weak association between the BACE1 polymorphism in exon 5 and AD in those carrying the APOE epsilon4 allele.
Publication types
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Aged
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Alzheimer Disease / enzymology*
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Alzheimer Disease / genetics*
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Amyloid Precursor Protein Secretases
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Amyloid beta-Peptides / biosynthesis
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Amyloid beta-Peptides / genetics
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Amyloid beta-Protein Precursor / genetics
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Amyloid beta-Protein Precursor / metabolism*
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Apolipoprotein E4
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Apolipoproteins E / genetics
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Aspartic Acid Endopeptidases / genetics*
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Endopeptidases
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Exons / genetics
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Female
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Gene Expression Regulation, Enzymologic / genetics
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Gene Frequency / genetics
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Genetic Testing
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Genotype
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Humans
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Male
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Mutation / genetics
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Polymorphism, Genetic / genetics*
Substances
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Amyloid beta-Peptides
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Amyloid beta-Protein Precursor
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Apolipoprotein E4
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Apolipoproteins E
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Amyloid Precursor Protein Secretases
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Endopeptidases
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Aspartic Acid Endopeptidases
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BACE2 protein, human
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BACE1 protein, human