Table I.
Currently known common Alzheimer’s disease-associated genes.
| Chromosome | Protein | Function | Gene defect | Phenotype |
|---|---|---|---|---|
| 21q21.2 | APP | Aβ generation | APP mutation | Inc. production of all Aβ peptides or Aβ40 peptide |
| 14q24.3 | PSEN1 | Aβ generation | PSEN1 mutation | Inc. production of Aβ42 peptide |
| 1q31-q42 | PSEN2 | Aβ generation | PSEN2 mutation | Inc. production of Aβ42 peptide |
| 10q.23.33 | IDE | Aβ degradation | IDE mutation | Dec. degradation of Aβ peptides |
| 19q13.2 | APOE | Aβ clearance/export, Aβ oligomerization | APOE-4 polymorphism | Dec. density of Aβ plaques and vascular deposits |
Inc., increased; Dec., decreased; APP, amyloid precursor protein; Aβ, β-amyloid; PSEN, presenilin; IDE, insuilin-degrading enzyme; APOE, apolipoprotein E.