What is the role of presenilin 1 (PS1) and presenilin 2 (PS2) in the neurogenetics of Alzheimer disease (AD)?

Updated: May 09, 2019
  • Author: Shaheen E Lakhan, MD, PhD, MS, MEd; Chief Editor: Jasvinder Chawla, MD, MBA  more...
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Answer

A significant proportion of early-onset autosomal-dominant AD cases have been linked to a candidate gene on chromosome 14 (14q24.3) called presenilin-1 (PS1) and a candidate gene on chromosome 1 called presenilin-2 (PS2). The 2 putative products of these candidate genes, PS1 and PS2, share substantial amino-acid and structural similarities, suggesting that they may be functionally related. In addition, the expression patterns of PS1 and PS2 in the brain are similar, if not identical.


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