Presenilin 2 (PSEN2) is a protein that is encoded by the PSEN2 gene in humans. PSEN2 is driven by two separate promoter elements P1 and P2, which are located in exon 1 and exon 2, respectively. Upstream P1 is a housekeeping promoter. The psen2-p1 activity is dependent on a stimulating protein 1 binding site, at up to 5 start sites. Downstream P2 is caused by Egr-1, which inhibits the activity of psen2-p1. Interestingly, one study showed that Egr-1 did not regulate the PSEN2 promoter in the mouse.
|Basic Information of PSEN2|
|Aliases||AD3LP, AD5, E5-1, STM-2|
|Organism||Homo sapiens (Human)|
The genetic form of the disease in patients with Alzt's disease (AD) carries a mutation in the presenilin protein (PSEN1; PSEN2) or amyloid precursor protein (APP). These disease-associated mutations result in increased production of longer amyloid, the major component of amyloid deposits found in the AD brain. "Elderly" is thought to regulate the processing of the application by affecting gamma secretase, an enzyme that can be used for cleavage, and it is believed that premature aging is related to the cleavage of the Notch receptor. So they either directly regulate the activity of gamma secretase, or they are proteases themselves. Two alternative transcripts of PSEN2 have been identified. In melanocytes, PSEN2 gene expression can be regulated by MITF.
Fig.1 The structure of Presenilin-2.
In this article, two different structures were found in the predictive analysis of the silicate protein structure of PSEN2 R62 and C62, suggesting that large perturbations of the R62C mutation may result in dysregulation of PSEN2, which may alter normal amyloid production.
This article summarizes the PSEN2 mutations and the potential effects of these mutations in dementia-related diseases.
Genomic editing data confirmed the robustness of mutation-related changes in the Aβ42/40 ratio and also showed electrophysiological changes associated with the psen2 mutation.
These results suggest that the non-negligible part of the PSEN1 mutation occurs in newborns, which is important for gene counseling because PSEN1 mutation screening is currently only performed in family cases.
The authors predicted the structure of the PSEN2, the native Val 214 residue and the Leu 214 mutation, revealing significant structural changes in this region.
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