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 [29].
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.
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, [37] but there have been few studies on these genes in China.