Presence of a mutation in PSEN1 or PSEN2 gene is associated with an impaired brain endothelial cell phenotype in vitro.

ABSTRACT:

Background

Alzheimer's disease (AD) is the most common form of neurodegenerative disease. It is an irreversible condition marked by irreversible cognitive loss, commonly attributed to the loss of hippocampal neurons due to the formation of senile plaques and neurofibrillary tangles. Although the sporadic form is the most prevalent, the presence of familial form (involving several genes such as APP, PSEN1, and PSEN2) of the disease is commonly used as a model for understanding the pathophysiology of the disease. The aim of this study is to investigate the effect of a mutation on PSEN1 and PSEN2 genes on the BBB function using induced pluripotent stem cells (iPSCs).

Methods

iPSC lines from patients suffering from a familial form of Alzheimer's disease and harboring mutations i

SUBMITTER: Raut S 

PROVIDER: S-EPMC7789219 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature