AD-MT
MCID: ALZ029
MIFTS: 24

Alzheimer Disease Mitochondrial (AD-MT)

Categories: Genetic diseases

Aliases & Classifications for Alzheimer Disease Mitochondrial

MalaCards integrated aliases for Alzheimer Disease Mitochondrial:

Name: Alzheimer Disease Mitochondrial 57 73
Alzheimer Disease, Susceptibility to, Mitochondrial 57
Ad-Mt 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
? mitochondrial form
multiple autosomal dominant forms.


HPO:

31
alzheimer disease mitochondrial:
Inheritance autosomal dominant inheritance mitochondrial inheritance
Onset and clinical course late onset


Classifications:



External Ids:

OMIM® 57 502500
MeSH 44 D000544
MedGen 41 C1838990

Summaries for Alzheimer Disease Mitochondrial

UniProtKB/Swiss-Prot : 73 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 severe congenital neutropenia 1 and thelaziasis. 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 are Prion disease and GABAergic synapse. Related phenotypes are dementia and parkinsonism

More information from OMIM: 502500

Related Diseases for Alzheimer Disease Mitochondrial

Graphical network of the top 20 diseases related to Alzheimer Disease Mitochondrial:



Diseases related to Alzheimer Disease Mitochondrial

Symptoms & Phenotypes for Alzheimer Disease Mitochondrial

Human phenotypes related to Alzheimer Disease Mitochondrial:

31
# Description HPO Frequency HPO Source Accession
1 dementia 31 HP:0000726
2 parkinsonism 31 HP:0001300
3 neurofibrillary tangles 31 HP:0002185
4 alzheimer disease 31 HP:0002511
5 long-tract signs 31 HP:0002423

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neuro:
presenile and senile dementia. parkinsonism. long tract signs.

Lab:
neurofibrillary tangles composed of disordered microtubules in neurons.

Misc:
late onset.

Clinical features from OMIM®:

502500 (Updated 05-Mar-2021)

Drugs & Therapeutics for Alzheimer Disease Mitochondrial

Search Clinical Trials , NIH Clinical Center for Alzheimer Disease Mitochondrial

Genetic Tests for Alzheimer Disease Mitochondrial

Anatomical Context for Alzheimer Disease Mitochondrial

Publications for Alzheimer Disease Mitochondrial

Articles related to Alzheimer Disease Mitochondrial:

(show all 15)
# Title Authors PMID Year
1
Evidence that two reports of mtDNA cytochrome c oxidase "mutations" in Alzheimer's disease are based on nDNA pseudogenes of recent evolutionary origin. 57
9535760 1998
2
Ancient mtDNA sequences in the human nuclear genome: a potential source of errors in identifying pathogenic mutations. 57
9405711 1997
3
Apparent mtDNA heteroplasmy in Alzheimer's disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes. 57
9405710 1997
4
Mutations in mitochondrial cytochrome c oxidase genes segregate with late-onset Alzheimer disease. 57
9114023 1997
5
The tRNA(Gln) 4336 mitochondrial DNA variant is not a high penetrance mutation which predisposes to dementia before the age of 75 years. 57
9004131 1996
6
A mitochondrial DNA clone is associated with increased risk for Alzheimer disease. 57
7624338 1995
7
Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients. 57
8104867 1993
8
Is a point mutation in the mitochondrial ND2 gene associated with Alzheimer's disease. 57
1352971 1992
9
Detection of point mutations in codon 331 of mitochondrial NADH dehydrogenase subunit 2 in Alzheimer's brains. 57
1370613 1992
10
HeLaTG cells have mitochondrial DNA inserted into the c-myc oncogene. 57
1923509 1991
11
Mitochondrial biogenesis mediated by melatonin in an APPswe/PS1dE9 transgenic mice model. 61
30303857 2018
12
The role of metallothionein in a dinitrofluorobenzene-induced atopic dermatitis-like murine model. 61
30042397 2018
13
Complex disposition of methylthioninium redox forms determines efficacy in tau aggregation inhibitor therapy for Alzheimer's disease. 61
25320049 2015
14
Viral genome DNA/lipoplexes elicit in situ oncolytic viral replication and potent antitumor efficacy via systemic delivery. 61
21699929 2011
15
Elevated c-Src protein expression is an early event in colonic neoplasia. 61
9520949 1998

Variations for Alzheimer Disease Mitochondrial

UniProtKB/Swiss-Prot genetic disease variations for Alzheimer Disease Mitochondrial:

73
# Symbol AA change Variation ID SNP ID
1 MT-ND1 p.Met31Val VAR_004750 rs199476120
2 MT-ND2 p.Ala331Ser VAR_004758

Expression for Alzheimer Disease Mitochondrial

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

Pathways for Alzheimer Disease Mitochondrial

Pathways related to Alzheimer Disease Mitochondrial according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.67 MT-ND2 MT-ND1
2
Show member pathways
11.14 MT-ND2 MT-ND1

GO Terms for Alzheimer Disease Mitochondrial

Cellular components related to Alzheimer Disease Mitochondrial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.16 MT-ND2 MT-ND1
2 respiratory chain GO:0070469 8.96 MT-ND2 MT-ND1
3 mitochondrial respiratory chain complex I GO:0005747 8.62 MT-ND2 MT-ND1

Biological processes related to Alzheimer Disease Mitochondrial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.16 MT-ND2 MT-ND1
2 mitochondrial respiratory chain complex I assembly GO:0032981 8.96 MT-ND2 MT-ND1
3 mitochondrial electron transport, NADH to ubiquinone GO:0006120 8.62 MT-ND2 MT-ND1

Molecular functions related to Alzheimer Disease Mitochondrial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.62 MT-ND2 MT-ND1

Sources for Alzheimer Disease Mitochondrial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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