Recent findings have implicated genes on human chromosome 21 as important in the pathophysiology of Alzheimer's disease (AD). These include the high incidence of the pathological features characteristic of AD in individuals with Down syndrome (trisomy 21) and the localization of both a familial AD gene and the gene encoding amyloid precursor protein on chromosome 21. Substantial genetic homology exists between human chromosome 21 and mouse chromosome 16, including the gene encoding the amyloid precursor protein. Mice that are trisomic for chromosome 16 offer a genetic model for studies relevant to Down syndrome that may also help to clarify molecular mechanisms involved in Alzheimer's disease.
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