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

Snehal RautRonak PatelAbraham Jacob Al-Ahmad
Published in: Fluids and barriers of the CNS (2021)
Our study reports that iPSC-derived BMECs obtained from FAD patients showed impaired barrier properties and BMEC metabolism. In particular, mutation in the PSEN1 gene was associated with a more detrimental phenotype than mutation in PSEN2, as noted by a reduced barrier function, reduced drug efflux pump activity, and diminished glucose metabolism. Therefore, assessing the contribution of genetic mutations associated with Alzheimer's disease will allow us to better understand the contribution of the BBB in dementia, but also other neurodegenerative diseases.
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