Alzheimer Disease Mitochondrial

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OMIM 57 502500 MedGen 42 C1838990

MeSH 44 D000544 SNOMED-CT via HPO 69 52448006 32798002 85775002 230267005 26929004 more

UniProtKB/Swiss-Prot : ⁷⁵ Alzheimer disease mitochondrial: Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death.

MalaCards based summary : Alzheimer Disease Mitochondrial, also known as alzheimer disease, susceptibility to, mitochondrial, is related to mitochondrial dna-associated leigh syndrome and narp and deafness, nonsyndromic sensorineural, mitochondrial. An important gene associated with Alzheimer Disease Mitochondrial is MT-ND1 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 1), and among its related pathways/superpathways is Metabolism. Related phenotypes are dementia and parkinsonism

Description from OMIM: 502500

Clinical features from OMIM:

502500

Search Clinical Trials , NIH Clinical Center for Alzheimer Disease Mitochondrial

Search GEO for disease gene expression data for Alzheimer Disease Mitochondrial.