Early Onset Alzheimer’s Disease and Oxidative Stress

Figure 3

Schematic representation of Presenilin 1. Presenilins are membrane proteins that form the catalytic core of the γ-secretase complex. The PSEN1 gene is located on chromosome 14q24.2 and comprises 12 exons. PS1 is an integral membrane protein with eight transmembrane domains and a hydrophilic domain between domains 6 and 7. Two aspartate residues in transmembrane domains, (TMs) 6 and 7 constituting the catalytic site. To date, more than 185 mutations in PSEN1 have been described in 405 families all of which are related to the appearance of the disease at younger ages. Although mutations are found throughout the protein, most are located in the transmembrane region.