description
Alzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-beta (Abeta), a major component of senile plaques, has various pathological effects on cell and organelle function. The extracellular Abeta oligomers may activate caspases through activation of cell surface death receptors. Alternatively, intracellular Abeta may contribute to pathology by facilitating tau hyper-phosphorylation, disrupting mitochondria function, and triggering calcium dysfunction. To date genetic studies have revealed four genes that may be linked to autosomal dominant or familial early onset AD (FAD). These four genes include: amyloid precursor protein (APP), presenilin 1 (PS1), presenilin 2 (PS2) and apolipoprotein E (ApoE). All mutations associated with APP and PS proteins can lead to an increase in the production of Abeta peptides, specfically the more amyloidogenic form, Abeta42. FAD-linked PS1 mutation downregulates the unfolded protein response and leads to vulnerability to ER stress

external resources
NCBI:83097
KEGG:hsa05010
PUBMED:18782350
PUBMED:18035450
PUBMED:15177383
PUBMED:10527810
PUBMED:15363492
PUBMED:16677790
PUBMED:15295589
PUBMED:17055782
PUBMED:15864339
PUBMED:15750290
PUBMED:18675468
PUBMED:15232608
PUBMED:9848086
PUBMED:11484003
PUBMED:10830966
PUBMED:16529745
PUBMED:17568632

genes
ADAM10 , APAF1 , APBB1 , APOE , APP , FAS , ATP2A1 , ATP2A2 , ATP2A3 , ATP5F1A , ATP5F1B , ATP5F1C , ATP5F1D , ATP5F1E , ATP5PB , ATP5MC1 , ATP5MC2 , ATP5MC3 , ATP5PF , ATP5PO , BAD , BID , CACNA1C , CACNA1D , CACNA1F , CACNA1S , CALM1 , CALM2 , CALM3 , CALML3 , CAPN1 , CAPN2 , CASP3 , CASP7 , CASP8 , CASP9 , CDK5 , COX4I1 , COX5B , COX6A1 , COX6A2 , COX6B1 , COX6C , COX7A1 , COX7A2 , COX7B , COX7C , COX8A , CYC1 , ERN1 , GAPDH , GNAQ , GRIN1 , GRIN2A , GRIN2B , GRIN2C , GRIN2D , GSK3B , HSD17B10 , IDE , IL1B , ITPR1 , ITPR2 , ITPR3 , LPL , LRP1 , MAPT , MME , MT-ATP6 , MT-ATP8 , MT-CO1 , MT-CO2 , MT-CO3 , MT-CYB , NDUFA1 , NDUFA2 , NDUFA3 , NDUFA4 , NDUFA5 , NDUFA6 , NDUFA7 , NDUFA8 , NDUFA9 , NDUFA10 , NDUFAB1 , NDUFB1 , NDUFB2 , NDUFB3 , NDUFB4 , NDUFB5 , NDUFB6 , NDUFB7 , NDUFB8 , NDUFB9 , NDUFB10 , NDUFC1 , NDUFC2 , NDUFS1 , NDUFS2 , NDUFS3 , NDUFV1 , NDUFS4 , NDUFS5 , NDUFS6 , NDUFS8 , NDUFV2 , NDUFV3 , NOS1 , PLCB2 , PLCB3 , PLCB4 , PPP3CA , PPP3CB , PPP3CC , PPP3R1 , PPP3R2 , MAPK1 , MAPK3 , PSEN1 , PSEN2 , RYR3 , SDHA , SDHB , SDHC , SDHD , SNCA , ADAM17 , TNF , TNFRSF1A , UQCRB , UQCRC1 , UQCRC2 , UQCRFS1 , UQCRH , FADD , CDK5R1 , NAE1 , COX7A2L , COX5A , EIF2AK3 , RTN3 , ATP5PD , UQCR11 , ATF6 , PLCB1 , NCSTN , BACE1 , BACE2 , UQCRQ , UQCR10 , NDUFA13 , APH1A , CALML5 , CYCS , NDUFB11 , PSENEN , NDUFA12 , NDUFA4L2 , RTN4 , APH1B , COX4I2 , CALML4 , COX6B2 , NDUFA11 , CALML6 , COX7B2 , COX8C , NDUFS7 , UQCRHL , CASP12 , NDUFC2-KCTD14 ,