POLG1 in idiopathic Parkinson disease
Open accessAbstract
We studied POLG1 in 140 UK patients with idiopathic Parkinson disease (PD) and 279 Italian patients with PD and compared them to a UK control group (n = 207) and an Italian control group (n = 285). 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.
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There is no contribution of common genetic variants of Pol γ to the etiology of idiopathic PD.
“In support of the latter study, another group reported that there is no contribution of common genetic variants of Pol γ contributing to the etiology of idiopathic PD (Tiangyou et al., 2006).”
From Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases (2017) · cites this paper as Tiangyou et al., 2006
The A2492G substitution is probably a neutral polymorphism as it has a 1.1% frequency in controls.
“However, it was later determined that the substitution is probably a neutral polymorphism as it has a 1.1% frequency in controls (Luoma et al., 2007; Tiangyou et al., 2006).”
From Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases (2017) · cites this paper as Tiangyou et al., 2006
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POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion
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Early‐onset familial parkinsonism due to <i>POLG</i> mutations
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Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians
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Self-citationMutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility
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A Novel Polymerase γ Mutation in a Family With Ophthalmoplegia, Neuropathy, and Parkinsonism
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Monzio Compagnoni, G., Di Fonzo, A., Corti, S., Comi, G. P., Bresolin, N., & Masliah, E. (2020) · Molecular Neurobiology · doi:10.1007/s12035-020-01926-1 · Cited by 378 · see citing works
DeBalsi, K. L., Hoff, K. E., & Copeland, W. C. (2017) · Ageing Research Reviews · doi:10.1016/j.arr.2016.04.006 · Cited by 180 · see citing works
Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease
Luoma, P. T., Eerola, J., Ahola, S., Hakonen, A. H., Hellström, O., Kivistö, K. T., Tienari, P. J., & Suomalainen, A. (2007) · Neurology · doi:10.1212/01.wnl.0000276955.23735.eb · Cited by 154 · see citing works
- Authors
- Tiangyou, W., Hudson, G., Ghezzi, D., Ferrari, G., Zeviani, M., Burn, D. J., & Chinnery, P. F.
- Affiliations
- Newcastle University (GB)
- Venue
- Neurology
- Published
- 2006-11-14
- Volume
- 67
- Issue
- 9
- Pages
- 1698-1700
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W2123839204
- Cited by
- 50
- References
- 10
- Citations by year
- 2024: 1 · 2023: 3 · 2022: 2 · 2021: 2 · 2020: 2 · 2017: 1 · 2016: 1 · 2015: 1 · 2014: 1 · 2013: 2 · 2012: 7
- FWCI
- 3.44
- Type
- journal article
- Language
- en
- Open access
- green
- doi.org
- Locations
- Neurology (publishedVersion)
- PubMed (publishedVersion)
- Padua Research Archive (University of Padova) (submittedVersion)
- Newcastle University ePrints (Newcastle Univesity)
- Funders
- Fondazione Telethon
- Topics
- Health Sciences › Medicine › Neurology › Parkinson's Disease Mechanisms and Treatments
- Health Sciences › Medicine › Neurology › Neurological disorders and treatments
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Nuclear Receptors and Signaling
- Keywords
- POLG1, idiopathic Parkinson's disease, parkinsonism, genetic variants, dominant mutations, DNA polymerase gamma, genetic susceptibility
- MeSH terms
- DNA Polymerase gamma, Aged, DNA Mutational Analysis, DNA-Directed DNA Polymerase, Exons, Female, Gene Frequency, Genetic Markers, Genetic Testing, Genotype, United Kingdom, Humans, Italy, Male, Middle Aged, Mutation, Parkinson Disease, Polymorphism, Genetic, Genetic Variation, Cohort Studies, Genetic Predisposition to Disease
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