AD-MT
MCID: ALZ029
MIFTS: 32

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 56 73
Alzheimer Disease, Susceptibility to, Mitochondrial 56
Ad-Mt 73

Characteristics:

OMIM:

56
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 56 502500
MeSH 43 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 alzheimer disease and parkinson disease, late-onset. 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 Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include brain and colon, and related phenotypes are dementia and parkinsonism

More information from OMIM: 502500

Related Diseases for Alzheimer Disease Mitochondrial

Diseases related to Alzheimer Disease Mitochondrial via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 alzheimer disease 29.1 SLC25A4 PPID OGDH MT-ND2 MT-ND1 MAPT
2 parkinson disease, late-onset 28.3 TFAM OGDH MT-ND1 MAPT APOE
3 severe congenital neutropenia 1 10.5 MT-ND2 MT-ND1
4 mitochondrial myopathy, infantile, transient 10.4 MT-ND2 MT-ND1
5 thelaziasis 10.4 MT-ND2 MT-ND1
6 mitochondrial dna depletion syndrome 12a 10.3 SLC25A4 APOE
7 posterior cortical atrophy 10.3 MAPT APOE
8 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 10.3 SLC25A4 MT-ND2
9 gerstmann syndrome 10.3 MAPT APOE
10 simultanagnosia 10.3 MAPT APOE
11 visual agnosia 10.3 MAPT APOE
12 semantic dementia 10.3 MAPT APOE
13 alzheimer disease 10 10.3 MAPT APOE
14 hereditary optic neuropathy 10.2 MT-ND2 MT-ND1
15 age-related hearing loss 10.2 MAPT APOE
16 binswanger's disease 10.2 MAPT APOE
17 nominal aphasia 10.2 MAPT APOE
18 alexia 10.2 MAPT APOE
19 alzheimer disease 2 10.2 MAPT APOE
20 arteriolosclerosis 10.2 MAPT APOE
21 cerebral amyloid angiopathy, app-related 10.2 MAPT APOE
22 mitochondrial dna depletion syndrome 9 10.1 SCO1 MT-ND1
23 communicating hydrocephalus 10.0 MAPT APOE
24 mitochondrial dna maintenance defects 9.9 TFAM SLC25A4
25 gracile syndrome 9.8 SCO1 CYC1
26 myoclonic epilepsy associated with ragged-red fibers 9.8 TFAM MT-ND1 CYC1
27 autosomal dominant progressive external ophthalmoplegia 9.8 TFAM SLC25A4
28 wernicke encephalopathy 9.7 OGDH MAPT
29 3-methylglutaconic aciduria, type iii 9.7 YME1L1 SLC25A4 OGDH MT-ND1
30 mitochondrial encephalomyopathy 9.7 TFAM MT-ND2 MT-ND1
31 mitochondrial disorders 9.6 TFAM SLC25A4 MT-ND1 ATP5F1A
32 leber optic atrophy 9.6 TFAM SLC25A4 MT-ND2 MT-ND1
33 kearns-sayre syndrome 9.6 TFAM SLC25A4 MT-ND2 MT-ND1
34 cranial nerve disease 9.6 YME1L1 TFAM MT-ND1
35 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.6 TFAM MT-ND2 MT-ND1 MAPT
36 optic nerve disease 9.5 YME1L1 TFAM MT-ND2 MT-ND1
37 mitochondrial myopathy 9.4 TFAM SLC25A4 MT-ND2 MT-ND1 MAPT
38 myopathy 9.0 TFAM SLC25A4 SCO1 MT-ND2 MT-ND1 MAPT
39 leigh syndrome 8.8 TFAM SCO1 PTCD1 PDP1 MT-ND2 MT-ND1
40 mitochondrial metabolism disease 8.6 TFAM SLC25A4 SCO1 PTCD1 PDP1 MT-ND2

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:

56
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

GenomeRNAi Phenotypes related to Alzheimer Disease Mitochondrial according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00251-A-1 9.1 ATP5F1B
2 Decreased shRNA abundance GR00251-A-2 9.1 ATP5F1B
3 Decreased shRNA abundance GR00297-A 9.1 ATP5F1A ATP5F1B CYC1 OGDH

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

MalaCards organs/tissues related to Alzheimer Disease Mitochondrial:

40
Brain, Colon

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. 56
9535760 1998
2
Apparent mtDNA heteroplasmy in Alzheimer's disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes. 56
9405710 1997
3
Ancient mtDNA sequences in the human nuclear genome: a potential source of errors in identifying pathogenic mutations. 56
9405711 1997
4
Mutations in mitochondrial cytochrome c oxidase genes segregate with late-onset Alzheimer disease. 56
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. 56
9004131 1996
6
A mitochondrial DNA clone is associated with increased risk for Alzheimer disease. 56
7624338 1995
7
Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients. 56
8104867 1993
8
Is a point mutation in the mitochondrial ND2 gene associated with Alzheimer's disease. 56
1352971 1992
9
Detection of point mutations in codon 331 of mitochondrial NADH dehydrogenase subunit 2 in Alzheimer's brains. 56
1370613 1992
10
HeLaTG cells have mitochondrial DNA inserted into the c-myc oncogene. 56
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

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 membrane GO:0031966 9.71 OGDH MT-ND1 ATP5MC1 ATP5F1B
2 mitochondrial matrix GO:0005759 9.7 TFAM TEFM PTCD1 PDP1 OGDH ATP5F1B
3 respiratory chain GO:0070469 9.63 MT-ND2 MT-ND1 CYC1
4 mitochondrial inner membrane GO:0005743 9.61 YME1L1 SLC25A4 SCO1 MT-ND2 MT-ND1 CYC1
5 mitochondrial nucleoid GO:0042645 9.54 TFAM TEFM ATP5F1B
6 mitochondrion GO:0005739 9.5 YME1L1 TFAM TEFM SLC25A4 SCO1 PTCD1
7 proton-transporting ATP synthase complex, catalytic core F(1) GO:0045261 9.43 ATP5F1B ATP5F1A
8 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.43 ATP5MC1 ATP5F1B ATP5F1A
9 proton-transporting ATP synthase complex GO:0045259 9.32 ATP5F1B ATP5F1A

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

# Name GO ID Score Top Affiliating Genes
1 proton transmembrane transport GO:1902600 9.61 ATP5MC1 ATP5F1B ATP5F1A
2 mitochondrion organization GO:0007005 9.58 YME1L1 TFAM ATP5F1B
3 generation of precursor metabolites and energy GO:0006091 9.5 SLC25A4 OGDH ATP5F1B
4 cristae formation GO:0042407 9.43 ATP5MC1 ATP5F1B ATP5F1A
5 mitochondrial transcription GO:0006390 9.37 TFAM TEFM
6 ATP biosynthetic process GO:0006754 9.33 ATP5MC1 ATP5F1B ATP5F1A
7 ATP synthesis coupled proton transport GO:0015986 9.13 ATP5MC1 ATP5F1B ATP5F1A
8 mitochondrial ATP synthesis coupled proton transport GO:0042776 8.92 CYC1 ATP5MC1 ATP5F1B ATP5F1A

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

# Name GO ID Score Top Affiliating Genes
1 heat shock protein binding GO:0031072 9.33 TFAM PPID OGDH
2 MHC class I protein binding GO:0042288 9.32 ATP5F1B ATP5F1A
3 lipoprotein particle binding GO:0071813 9.26 MAPT APOE
4 angiostatin binding GO:0043532 8.96 ATP5F1B ATP5F1A
5 proton-transporting ATP synthase activity, rotational mechanism GO:0046933 8.8 ATP5MC1 ATP5F1B ATP5F1A

Sources for Alzheimer Disease Mitochondrial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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