|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Therefore, through the use of induced pluripotent stem cells (iPSCs), we assessed cellular alterations in novel p.Q811R POLG1 (POLG1<sup>Q811R</sup>) variant midbrain dopaminergic neuron-containing spheroids (MDNS) from a female patient who developed early-onset PD, and compared them to cultures derived from a healthy control of the same gender.
|
31843010 |
2019 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We detected a significant difference in the length variation of the CAG repeat in POLG1 between patients with early-onset PD compared to controls.
|
29029963 |
2017 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our results provided evidence for a significantly lower of mtDNA copy number in PD patients and POLG1 variation for reducing mtDNA copy number in PD.
|
25585994 |
2015 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
These data provide no evidence to suggest CAG repeat length in POLG1 affects PD susceptibility.
|
24491464 |
2014 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this study, we investigated if mutations in POLG1 had any correlation with Parkinson's disease.
|
24122062 |
2013 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our results suggest that 3-T neuromelanin MRI may be useful for differentiating POLG1 mutation-associated parkinsonism from iPD, and that POLG1 mutations may cause selective neuronal loss in the SN via a mechanism different from that of iPD.
|
23673011 |
2013 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Whether this reflects a direct influence of POLG on the pathogenesis of PD or linkage disequilibrium between POLG1 alleles and nearby, disease-influencing genetic variants remains unknown.
|
22963882 |
2012 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
However, we did not identify any significant association between ten exonic SNPs of POLG1 and PD.
|
23251356 |
2012 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that POLG1 poly-Q alleles other than the conserved 10Q allele may increase susceptibility to PD.
|
20399836 |
2010 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
We analyzed this POLG1 trinucleotide repeat in a Swedish PD case-control material and detected variations from 5Q to 15Q.
|
20826197 |
2010 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
We found clustering of rare variants of the POLG1 CAG-repeat, encoding a polyglutamine tract, in Finnish patients with idiopathic PD as compared to their spouses (p = 0.003; OR 3.01, 95% CI 1.35 to 6.71), population controls (p = 0.001; OR 2.45, 95% CI 1.45 to 4.14), and patients with nonparkinsonian neurologic disorders (p = 0.05, OR 1.98, 95% CI 0.97 to 4.05).
|
17846414 |
2007 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our observations do not support a role for common POLG1 genetic variants in PD and indicate that dominant POLG1 mutations are a rare cause of parkinsonism in the general population.
|
16943369 |
2006 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Recently identified nuclear gene mutations of mitochondrial proteins include mutations of frataxin causing Friedreich's ataxia, PINK1, DJ1 causing Parkinson's disease and POLG causing infantile mtDNA depletion syndrome, ophthalmoplegia, parkinsonism, male subfertility and, in a transgenic mouse model, premature senescence.
|
16815381 |
2006 |