MCID: PRK088
MIFTS: 19

Parkinson Disease, Mitochondrial

Aliases & Classifications for Parkinson Disease, Mitochondrial

MalaCards integrated aliases for Parkinson Disease, Mitochondrial:

Name: Parkinson Disease, Mitochondrial 57 29 6

External Ids:

OMIM® 57 556500

Summaries for Parkinson Disease, Mitochondrial

MalaCards based summary : Parkinson Disease, Mitochondrial is related to parkinson disease, late-onset and lactic acidosis. An important gene associated with Parkinson Disease, Mitochondrial is MT-TK (Mitochondrially Encoded TRNA-Lys (AAA/G)), and among its related pathways/superpathways is tRNA Aminoacylation. Affiliated tissues include skeletal muscle.

More information from OMIM: 556500

Related Diseases for Parkinson Disease, Mitochondrial

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



Diseases related to Parkinson Disease, Mitochondrial

Symptoms & Phenotypes for Parkinson Disease, Mitochondrial

Clinical features from OMIM®:

556500 (Updated 20-May-2021)

Drugs & Therapeutics for Parkinson Disease, Mitochondrial

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Functional and Metabolomic Biomarkers of Mitochondrial Dysfunction in Parkinson's Disease Recruiting NCT04300608

Search NIH Clinical Center for Parkinson Disease, Mitochondrial

Genetic Tests for Parkinson Disease, Mitochondrial

Genetic tests related to Parkinson Disease, Mitochondrial:

# Genetic test Affiliating Genes
1 Parkinson Disease, Mitochondrial 29 MT-TT

Anatomical Context for Parkinson Disease, Mitochondrial

MalaCards organs/tissues related to Parkinson Disease, Mitochondrial:

40
Skeletal Muscle

Publications for Parkinson Disease, Mitochondrial

Articles related to Parkinson Disease, Mitochondrial:

(show all 44)
# Title Authors PMID Year
1
Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys. 6 57
17200493 2007
2
Disruption of the human COQ5-containing protein complex is associated with diminished coenzyme Q10 levels under two different conditions of mitochondrial energy deficiency. 6
27155576 2016
3
Cavitating leukoencephalopathy in a child carrying the mitochondrial A8344G mutation. 6
20581069 2010
4
Coexistence of mutations in PINK1 and mitochondrial DNA in early onset parkinsonism. 57
18524835 2008
5
Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD. 57
15786469 2005
6
A rare truncating mutation in ADH1C (G78Stop) shows significant association with Parkinson disease in a large international sample. 6
15642852 2005
7
Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. 57
12618962 2003
8
Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups. 57
11938495 2002
9
Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients. 6
10699170 2000
10
Two novel point mutations of mitochondrial tRNA genes in histologically confirmed Parkinson disease. 6
10369889 1999
11
Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA. 6
9674814 1998
12
Mitochondrial dysfunction in idiopathic Parkinson disease. 57
9529370 1998
13
The myoclonic epilepsy and ragged-red fiber mutation provides new insights into human mitochondrial function and genetics. 6
9529371 1998
14
Classification of European mtDNAs from an analysis of three European populations. 57
8978068 1996
15
Origin and functional consequences of the complex I defect in Parkinson's disease. 57
8871587 1996
16
Leigh syndrome: clinical features and biochemical and DNA abnormalities. 6
8602753 1996
17
MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination. 6
7647790 1995
18
Point mutations of mitochondrial genome in Parkinson's disease. 57
7723627 1995
19
Platelet-mediated transformation of mtDNA-less human cells: analysis of phenotypic variability among clones from normal individuals--and complementation behavior of the tRNALys mutation causing myoclonic epilepsy and ragged red fibers. 6
8198140 1994
20
Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome: report of a Chinese family with mitochondrial DNA point mutation in tRNA(Lys) gene. 6
8264702 1994
21
The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA. 6
8513395 1993
22
Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation"). 6
8170567 1993
23
Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A-->G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. 6
8447321 1993
24
Quantification of mitochondrial DNA carrying the tRNA(8344Lys) point mutation in myoclonus epilepsy and ragged-red-fiber disease. 6
8069655 1993
25
Mitochondrial genetics: principles and practice. 6
1463005 1992
26
Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF). 6
1334369 1992
27
Tissue segregation of a heteroplasmic mtDNA mutation in MERRF (myoclonic epilepsy with ragged red fibers) encephalomyopathy. 6
1487239 1992
28
The familial occurrence of Parkinson's disease. Lack of evidence for maternal inheritance. 57
1288529 1992
29
Uneven distribution of mitochondrial DNA mutation in MERRF dizygotic twins. 6
1324294 1992
30
A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome. 6
1910259 1991
31
Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF). 6
1661776 1991
32
Quantitation of mitochondrial DNA carrying tRNALys mutation in MERRF patients. 6
1910341 1991
33
Mitochondrial oxidative phosphorylation defects in Parkinson's disease. 57
1952821 1991
34
Clinical spectrum of mitochondrial DNA mutation at base pair 8344. 6
1678125 1991
35
Mitochondrial DNA and Parkinson's disease. 57
1904141 1991
36
Mitochondrial DNA mutation in a Chinese family with myoclonic epilepsy and ragged-red fiber disease. 6
1900002 1991
37
Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF). 6
1899320 1991
38
A common mitochondrial DNA mutation in the t-RNA(Lys) of patients with myoclonus epilepsy associated with ragged-red fibers. 6
2124116 1990
39
Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. 6
2112427 1990
40
Abnormalities of the electron transport chain in idiopathic Parkinson's disease. 57
2557792 1989
41
Deficiencies in complex I subunits of the respiratory chain in Parkinson's disease. 57
2551290 1989
42
Parkinson's disease in a nationwide twin cohort. 57
3399070 1988
43
Studies on the neurotoxicity of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine: inhibition of NAD-linked substrate oxidation by its metabolite, 1-methyl-4-phenylpyridinium. 57
3485701 1986
44
The Parkinson Disease Mitochondrial Hypothesis: Where Are We at? 61
25761946 2016

Variations for Parkinson Disease, Mitochondrial

ClinVar genetic disease variations for Parkinson Disease, Mitochondrial:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MT-TK m.8344A>G SNV Pathogenic 9579 rs118192098 GRCh37: MT:8344-8344
GRCh38: MT:8344-8344
2 ADH1C NM_000669.5(ADH1C):c.232G>T (p.Gly78Ter) SNV risk factor 18181 rs283413 GRCh37: 4:100268190-100268190
GRCh38: 4:99347033-99347033
3 MT-TT m.15950G>A SNV risk factor 9559 rs118203890 GRCh37: MT:15950-15950
GRCh38: MT:15950-15950
4 MT-TP m.15965A>G SNV risk factor 9571 rs199474700 GRCh37: MT:15965-15965
GRCh38: MT:15965-15965
5 NDUFV2 NM_021074.5(NDUFV2):c.86T>C (p.Val29Ala) SNV Uncertain significance 9054 rs906807 GRCh37: 18:9117867-9117867
GRCh38: 18:9117869-9117869

Expression for Parkinson Disease, Mitochondrial

Search GEO for disease gene expression data for Parkinson Disease, Mitochondrial.

Pathways for Parkinson Disease, Mitochondrial

Pathways related to Parkinson Disease, Mitochondrial according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.04 MT-TT MT-TP MT-TK

GO Terms for Parkinson Disease, Mitochondrial

Sources for Parkinson 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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