PSEN1

(redirected from Presenilin 1)
Also found in: Acronyms.

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 ?
Presenilin 1 and 2 genes, on chromosomes 14 and 1 respectively, are named similarly, because they seem similar.
Kline Institute for Psychiatric Research, discovered that the presenilin 1 gene performs a crucial biological function that enables cells to digest unwanted proteins and is essential for brain cell survival.
IGEN's ORIGEN technology can be used to assay for inhibition of presenilin 1.
Three genes are currently known to cause this EOAD--amyloid-beta precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2).
Researchers of Dominantly Inherited Alzheimer's Network (DIAN), an international study of inherited forms of Alzheimer's, are studying members of families who have mutations in one of three genes: amyloid precursor protein, presenilin 1 or presenilin 2.
Ubiquilin 1 encodes the protein ubiquilin 1, regulates protein degradation, interacts with presenilin 1 and presenilin 2, and promotes the accumulation of presenilin in vitro, they said.
Currently, three of those genes are known: amyloid precursor protein (APP), presenilin 1, and presenilin 2.
Washington, June 11 (ANI): Scientists have discovered how mutations in the presenilin 1 gene cause early-onset Alzheimer's disease (AD).
Dietary docosahexaenoic acid and docosapentaenoic acid ameliorate amyloid-beta and tau pathology via a mechanism involving presenilin 1 levels.
Interestingly, a few studies have shown the involvement of 3 mutations in the presenilin 1 gene (PSEN1) in familial forms of FTLD (24-26).
Several genes such as the genes that code for apolipoprotein E4, amyloid [beta]-precursor protein, and presenilin 1 and 2 have been linked to the development of Alzheimer disease (AD) (1).