PSEN1


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PSEN1

A gene on chromosome 14q24.3 that encodes a probable catalytic subunit of the gamma-secretase complex, which catalyses the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP. It may play a role in intracellular signalling and gene expression, and in linking chromatin to the nuclear membrane. PSEN1 stimulates cell–cell adhesion by associating with the E-cadherin/catenin complex; it cleaves E-cadherin during apoptosis or calcium influx, promoting the disassembly of the E-cadherin/catenin complex and increases the pool of cytoplasmic beta-catenin, thus downregulating Wnt signalling. It may play a role in haematopoiesis.

Molecular pathology
Defects in PSEN1 cause of Alzheimer disease type 3, frontotemporal dementia, cardiomyopathy dilated type 1U, and familial acne inversa type 3.
References in periodicals archive ?
An Alzheimer patient with very severe disease, genetically confirmed to have a known variant of PSEN1, showed promising benefits during treatment with the drug Bryostatin 1.
Researchers at the Banner Alzheimer's Institute in Arizona, Boston University and the University of Antioquia found notable differences in brain structure and function between the two groups, with the PSEN1 mutation carriers experiencing greater activity in regions of the brain called the hippocampus - involved in memory - and the parahippocampus, as well as having less grey matter in certain brain areas.
These possible "loss of function" PSEN1 mutations might act as inhibitors of the [gamma]-secretase cleavage of amyloid precursor protein (27), leading to a decrease of A[beta] (1-42) in the brain.
Scott is, however, a little relieved because Emily does not carry her mum's defective PSEN1 gene that would have predisposed her to Alzheimer's.
Although these are rare causes of AD overall, the disease is likely to occur in all patients with a mutation in APP or PSEN1 and in 95% of those with a mutation in PSEN2.