Evidence for polymerase gamma, POLG1 variation in reduced mitochondrial DNA copy number in Parkinson's disease
Abstract
Background It remains unclear whether the mtDNA content is related to the clinicopathological prognosis in Parkinson's disease (PD).Methods/results We analyzed the copy number of mtDNA using quantitative real-time PCR in 414 cases with PD and 231 healthy subjects from mainland of China. The level of mtDNA was significantly decreased in PD patients' peripheral blood as compared to that of healthy controls (p < 0.001). Furthermore, lower mtDNA copy number was more frequently detected (75%) in the older onset age group (≥ 50 years old) than that in (49%) the younger group (<50 years old, p = 0.007), suggesting mtDNA content might be an important genetic event in PD progression. Using direct sequencing, we examined the mutations in the D-loop region of mtDNA in 318 PD patients. The results revealed that 17% of the PD patients carried mutations in the D-loop of mtDNA, and 55% of these mutations were heteroplasmic. In addition, PD patients harboring AA + AA genotype of c.2070-12T > A and c.2070-64G > A in POLG1 along with mutations in POLG1 had a significantly lower copy number of mtDNA than those of PD patients without POLG1 alterations.Conclusions 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.
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Seven PEO families of various ethnic origins were reported to have Pol γ mutations with multiple mtDNA deletions and reduced mtDNA copy number.
“Seven PEO families of various ethnic origins were reported to have Pol γ mutations with multiple mtDNA deletions (Luoma et al., 2004) and reduced mtDNA copy number (Gui et al., 2015).”
From Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases (2017) · cites this paper as Gui et al., 2015
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- Authors
- Gui, Y.-X., Xu, Z.-P., Lv, W., Zhao, J.-J., & Hu, X.-Y.
- Affiliations
- Sir Run Run Shaw Hospital (CN)
- ORCID
- Lv, Wen
- Venue
- Parkinsonism & Related Disorders
- Publisher
- Elsevier BV
- Published
- 2015-03
- Volume
- 21
- Issue
- 3
- Pages
- 282-286
- ISSN
- 1353-8020 (ISSN-L)
- OpenAlex
- W1975874583
- Cited by
- 59
- References
- 26
- Citations by year
- 2026: 3 · 2025: 6 · 2024: 7 · 2023: 5 · 2022: 6 · 2021: 9 · 2020: 8 · 2019: 3 · 2018: 4 · 2017: 4 · 2016: 4
- FWCI
- 2.82
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Parkinsonism & Related Disorders (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Zhejiang Provincial Natural Science Foundation of China (LQ14H090003, Q14H090011)
- Zhejiang Province Medicine Health General Research Program (2013KYA114)
- National Natural Science Foundation of China (81401038)
- Topics
- Health Sciences › Medicine › Neurology › Parkinson's Disease Mechanisms and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- Parkinson's disease, mitochondrial DNA copy number
- MeSH terms
- DNA Polymerase gamma, Aged, DNA Mutational Analysis, DNA-Directed DNA Polymerase, Female, Genotype, Humans, Male, Middle Aged, Parkinson Disease, Statistics as Topic, DNA Copy Number Variations
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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