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Alzheimer's disease

PAG Title Alzheimer's disease
PAG ID WAG000191
Type P
Source Link KEGG
Publication Reference NA
PAG 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. Altertively, 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 domint 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.
Species Homo sapiens
Quality Metric Scores nCoCo Score: 957
Information Content Rich
Other IDs hsa05010
Base PAG ID WAG000191
Human Phenotyte Annotation
Curator PAGER curation team
Curator Contact PAGER-contact@googlegroups.com
Gene ID Gene symbol Gene name RP_score
Gene A Gene B Source SCORE

Gene A Gene B Mechanism Source
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