Affiliations: [a] Alzheimer’s Disease Genetics Laboratory, Centre for Molecular Pathology, School of Biological Sciences, University of Adelaide, Adelaide, SA, Australia
| [b] Department of Neurology, University of Washington, Seattle, WA, USA
Correspondence:
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Correspondence to: Morgan Newman, School of Biological Sciences, The University of Adelaide, Adelaide, SA, Australia. Tel.: +61 8 83134863; E-mail: [email protected].
Abstract: PRESENILIN 1 (PSEN1) and PRESENILIN 2 (PSEN2) genes are loci for mutations causing familial Alzheimer’s disease (fAD). However, the function of these genes and how they contribute to fAD pathogenesis has not been fully determined. This review provides a summary of the overlapping and independent functions of the PRESENILINS with a focus on the lesser studied PSEN2. As a core component of the γ-secretase complex, the PSEN2 protein is involved in many γ-secretase-related physiological activities, including innate immunity, Notch signaling, autophagy, and mitochondrial function. These physiological activities have all been associated with AD progression, indicating that PSEN2 plays a particular role in AD pathogenesis.
