The slow loss of memory, thinking, and independence that defines Alzheimer’s disease continues to affect millions worldwide.

In an exceptionally rare case, a patient with a high genetic risk of developing Alzheimer's appears to have avoided his ...

The impact of PSEN2 mutations has remained less understood-; until now. A research team led by Prof. Wim Annaert at VIB-KU Leuven has shed light on how mutated PSEN2 accelerates disease ...

Hippocampal neurons with staining for endosomes (turquoise and purple) and lysosomes (yellow). When the PSEN2 gene is absent or carries a familial Alzheimer-related mutation (middle), the ...

One genetic variant associated with Alzheimer’s disease progression is presenilin 2 (PSEN2), which is correlated to an increased risk for early-onset familial Alzheimer’s disease (EOFAD ...

The biological effect of this mutation is unknown, but the related G359Lfs*74 (Intron 11 delA) mutation appears to reduce PSEN2 stability (Perrone et al., 2018).

We have analyzed the 5′-upstream promoter region of the presenilin 2 gene (PSEN2) for regulatory elements and examined Alzheimer disease (AD) patients and non-demented individuals for ...

Researchers at Washington University School of Medicine in St. Louis have conducted a longitudinal study on an individual carrying the presenilin 2 (PSEN2) p.Asn141Ile mutation, a genetic variant ...

Alzheimer’s Disease (AD) is the result of complex interactions between risk factors that cause pleiotropic changes in molecular networks linking a host of biological processes. A variety of genetic ...

The results also extended to mutations in PSEN2 and the APP gene, though with more variation. Even within the same family, people carrying the same PSEN2 mutation showed very different ages of onset.

The mutation appears to reduce PSEN2 stability. Mutant transcript levels were reduced more than fourfold and mutant protein levels were approximately 50 percent reduced compared with those of ...