Alzheimer Disease, Genetics of

Abstract

In almost 20 years of ongoing research, the genetic cause of Alzheimer disease (AD) is understood for less than 5% of all cases. For the remainder of AD sufferers, multiple genetic and environmental factors probably play a role in contributing to disease onset, severity and progression. To date, only the gene encoding apolipoprotein E (APOE) is recognized as a major genetic risk factor, but numerous other candidates have emerged. What we have learned from these findings is discussed as are the results from recent genome linkage studies on affected sibling pairs which have yielded new chromosomal regions of interest and in turn new candidate genes alongside those reported from ongoing candidate gene association studies.

Keywords: dementia; linkage; familial; sporadic; Alzgene

Figure 1.

Schematic of the amyloid precursor protein (APP) encoded for by APP. The Aβ region which is produced from APP is highlighted and magnified to show the amino acid sequence it consists of, the cleavage sites within and around Aβ in where the α‐, β‐ and γ‐secretases operate and also the underlined and numbered (according to 770 amino acid splice variant of APP) amino acids positions of some of the first APP mutations identified the location of which coincides with sites of secretase activity. Modified with permission from Kehoe .

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Kehoe, Patrick G(Sep 2008) Alzheimer Disease, Genetics of. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0020228]