Wallon et al., "APP, PSEN1, and PSEN2
mutations in early-onset Alzheimer's disease: a genetic screening study of familial and sporadic cases," PLoS Medicine, vol.
PSEN1 and PSEN2
are part of the [gamma]-secretase complex, which also includes nicastrin, anterior pharynx-defective 1, and presenilin enhancer 2 .
fAD-derived iPSCs with PSEN1 (A246E) and PSEN2
(N141I) mutations were also established.
Rare variants in APP, PSEN1 and PSEN2
increase risk for AD in late-onset alzheimer's disease families.
The discovery of early-onset mutations in the PSEN genes aids in development of PSEN1 and PSEN2
transgenic mouse models.
Mendelian inheritance of 3 genes, PSEN1, PSEN2
, and APP, is associated with an early-onset Alzheimer's disease (EOAD).
Also, enrichment analysis of KEGG pathways showed only a significant (p = 0.038 after FDR correction) group of AD associated genes (PSEN1, PSEN2
, APP and APOE).
There are three main gene mutations that have been implicated in familial Alzheimer's disease--Amyloid beta (A4) precursor protein (APP), (19) Presenilin 1 (PSEN1) (20) and Presenilin 2 (PSEN2
[1.] Yu C, Marchani E, Nikisch G, et al The N141I mutation in PSEN2
: Implications for the quintessential case of Alzheimer disease.
Researchers in other countries report that [beta]-amyloid precursor protein (APP), presenilin 1 (PSEN1) and presenilin 2 (PSEN2
) are related to early-onset AD,  but there have been few studies on these genes in China.