Objective Mutations in presenilin genes are the major cause of Alzheimer’s disease. However, little is known about their expression and function in the gut. In this study, we identify the presenilins ...

In PSEN2 mutations, the correlation explained about half of the variation in age of onset; for APP, the correlation was even stronger. Interestingly, although PSEN1, PSEN2, and APP mutations disrupted ...

The PSEN1 and PSEN2 genes encode similar proteins that act as core parts of a complex enzyme system called γ-secretase. This system cuts the APP protein into smaller fragments called amyloid-beta ...

Several genetic variants in APP, PSEN1, and PSEN2 fit the bill, but not all. A study led by Jorge Llibre-Guerra of Washington University in St. Louis, published February 4 in Brain, explains how the ...

In an exceptionally rare case, a patient with a high genetic risk of developing Alzheimer's appears to have avoided his probable fate for decades, according to new research.. The man's situation is ...

PSEN2 mutations are associated with an accumulation of the protein amyloid-beta in the brain, which is currently considered a hallmark of Alzheimer’s disease, as well as an increased risk for ...

The family has been a subject of scientific study for years, as their genetic mutation is tied to a rare form of Alzheimer’s linked to a gene called PSEN2.

A man in his 70s from Oklahoma could provide a key to Alzheimer's disease, as scientists are rethinking the underlying cause of the condition and how it can be treated ...

Despite carrying a dominant Presenilin 2 (PSEN2) p.Asn141Ile mutation, a known genetic link to Alzheimer's disease (AD), the participant displayed no AD symptoms even 18 years beyond the expected ...

psen2 F0 knockouts initiate more sleep bouts during the day. a, Human PSEN1 amino acid sequence (top) aligned to zebrafish Psen1 amino acid sequence (bottom). In the zebrafish protein, each amino acid ...

Remarkably, PSEN2 KO worsens amyloid pathology in the APP KI mice, which is ascribed to the increased ability of PSEN1 to secrete Aβ in the setting of PSEN2 KO. The PSEN2 FAD mutation causes elevated ...

This involves testing for mutations in the APP, PSEN1, and PSEN2 genes, which are often linked with FAD. Genetic testing is useful for families with a history of early onset Alzheimer’s to ...