The genetics of Alzheimer's disease.


C K. Chai

Document Type


Publication Date



Alzheimer-Disease, Amyloid-beta-Protein, Amyloid-beta-Protein-Precursor, Apolipoprotein-E2, Apolipoprotein-E3, Apolipoprotein-E4, Brain, Chromosome-Mapping, Genetic-Predisposition-to-Disease, Genotype, Humans, Mutation, Presenilin-1, Presenilin-2, Presenilins, Receptors-Cell-Surface

JAX Location

see Reprint Collection (a pdf is available)

JAX Source

Am J Alzheimers Dis Other Demen 2007 Feb-Mar; 22(1):37-41.


The genetics of Alzheimer's disease is produced by 3 essentially interactive gene groups: (1) APP and presenilin 1 and 2; (2) APOE E2, E3, and E4; (3) genes on chromosomes 9, 10, 12, etc. If any gene in (1) mutates, beta amyloid (Abeta) increases sharply beyond what the genes of (3) can remove, with early-onset Alzheimer's disease the result. With retention of Abeta by E4 in (2), Alzheimer's disease might result even though (1) and (3) are normal. If any gene in (3) mutates, the level of Abeta will rise, but because many genes are involved in Abeta removal, late-onset Alzheimer's disease would be detected only eventually.

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