PSEN2

(redirected from presenilin 2)

PSEN2

A gene on chromosome 1q31-q42 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, or in linking chromatin to the nuclear membrane; it may also play a role in sorting proteins in the cytoplasm.

Molecular pathology
Defects in PSEN2 are a cause of Alzheimer disease type 4 and cardiomyopathy dilated type 1V.
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References in periodicals archive ?
More promising are the studies on amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2) mutations, identifying them as important factors of autosomal-dominant early-onset AD and FAD [14].
Mutations in genes encoding amyloid precursor protein (APP), Presenilin1, or Presenilin 2 can cause familial early-onset AD; however, the etiology of the more common sporadic AD remains unclear.[1]
A myristoylated calcium-binding protein that preferentially interacts with the Alzheimer's disease presenilin 2 protein.
(3) While mutations in chromosomes 1 and 14 result in the formation of abnormal presenilin 1 and presenilin 2, respectively.
Disease Donor (#) Age Gender Control n.1 Newborn M n.2 31 F Alzheimer's disease n.3 81 F n.4 38 F n.5 87 F Control n.6 74 M Disease Donor (#) APOE Control n.1 E3/E4 n.2 E3/E4 Alzheimer's disease n.3 E3/E3 n.4 E3/E3 n.5 E4/E4 Control n.6 E2/E2 Disease Donor (#) AXOL line 112 Control n.1 ax0015 C/T n.2 ax0114 Presenilin 1 A264E C/T Alzheimer's disease n.3 ax0115 Presenilin 2 N141I T/T n.4 ax0112 Presenilin 1 L286V T/T n.5 ax0111 C/C Control n.6 ax0018 T/T Disease Donor (#) 158 Control n.1 C/C n.2 C/C Alzheimer's disease n.3 C/C n.4 C/C n.5 C/C Control n.6 T/T More information can be found at https://www.Axolbio.Com/shop/category/disease-alzheimers-12.
Accumulation of A[beta] peptides is considered a key event in the pathogenesis of AD; presenilin 1 (PS1) and presenilin 2 (PS2) play a critical role in the [gamma]-secretase-mediated cleavage of amyloid precursor protein (APP) and consequently the generation of A[beta] peptides [6-8].
Neurons derived from iPSCs generated from familial AD (fAD) patients carrying mutations in genes encoding amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2) provide an innovative tool to elucidate AD etiology and develop efficient therapeutics.
The peptide was also shown to confer neuroprotection against an array of familial Alzheimer's disease (FAD) genes including presenilin 1, presenilin 2, and mutated APP [25, 33].
Platelets are also the primary source of A[beta] peptide in human blood (~90%) [21], and this secreted peptide is similar to that found in the senile plaques of AD patients and is similarly increased in vivo by the presenilin 1 and presenilin 2 and APP mutations linked to familial AD [22].
Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant.
Nam et al., "Reduced anxiety in the mice expressing mutant (N141I) presenilin 2," Journal of Neuroscience Research, vol.
"These mutations involve the gene for the amyloid precursor protein (APP) and the genes for the presenilin 1 and presenilin 2 proteins.