Cited by 118Mitochondrial Function and PathologyParkinson's Disease Mechanisms and TreatmentsGenetics, Aging, and Longevity in Model Organisms

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Somatic mitochondrial DNA mutations in cortex and substantia nigra in aging and Parkinson’s disease

Simon, David K, Lin, Michael T, Zheng, Leiya, Liu, Guang-Jun, Ahn, Colette H, Kim, Lauren M, Mauck, William M, Twu, Florence, Beal, M.Flint, Johns, Donald R·2004·Neurobiology of Aging

DOI 10.1016/s0197-4580(03)00037-x

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Abstract

Oxidative damage to mitochondrial DNA (mtDNA) increases with age in the brain and can induce G:C to T:A and T:A to G:C point mutations. Though rare at any particular site, multiple somatic mtDNA mutations induced by oxidative damage or by other mechanisms may accumulate with age in the brain and thus could play a role in aging and neurodegenerative diseases. However, no prior study has quantified the total burden of mtDNA point mutation subtypes in the brain. Using a highly sensitive cloning and sequencing strategy, we find that the aggregate levels of G:C to T:A and T:A to G:C transversions and of all point mutations increase with age in the frontal cortex (FCtx). In the substantia nigra (SN), the aggregate levels of point mutations in young controls are similar to the levels in the SN or FCtx of elderly subjects. Extrapolation from our data suggests an average of 2.7 (FCtx) to 3.2 (SN) somatic point mutations per mitochondrial genome in elderly subjects. There were no significant differences between Parkinson's disease (PD) patients and age-matched controls in somatic mutation levels. These results indicate that individually rare mtDNA point mutations reach a high aggregate burden in FCtx and SN of elderly subjects.

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Authors: Simon, D. K., Lin, M. T., Zheng, L., Liu, G.-J., Ahn, C. H., Kim, L. M., Mauck, W. M., Twu, F., Beal, M. F., & Johns, D. R.
Affiliations: Beth Israel Deaconess Medical Center (US)
Cornell University (US)
Corresponding author: Simon, David K
ORCID: Simon, David K
Mauck, William M
Beal, M.Flint
Venue: Neurobiology of Aging
Publisher: Elsevier BV
Published: 2004-01
Volume: 25
Issue: 1
Pages: 71-81
ISSN: 0197-4580 (ISSN-L)
DOI: 10.1016/s0197-4580(03)00037-x
OpenAlex: W2075132953
Cited by: 118
References: 64
Citations by year: 2026: 2 · 2025: 2 · 2024: 3 · 2023: 3 · 2022: 2 · 2021: 2 · 2020: 4 · 2019: 5 · 2018: 6 · 2017: 4 · 2016: 6 · 2015: 7 · 2014: 5 · 2013: 3 · 2012: 8
FWCI: 2.53
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: Neurobiology of Aging (publishedVersion)
PubMed (publishedVersion)
Funders: National Institutes of Health (5k24ns002239-05, 5k08ns001971-03, 5k08ag000798-03)
National Institute on Aging (R01AG20729, R01AG020729, K08-AG00798)
National Institute of Neurological Disorders and Stroke (K08 NS01971, K24 NS02239, K02 NS4311-01)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
Health Sciences › Medicine › Clinical Neurology › Parkinson's Disease Mechanisms and Treatments
Life Sciences › Biochemistry, Genetics and Molecular Biology › Aging › Genetics, Aging, and Longevity in Model Organisms
Keywords: somatic mitochondrial DNA mutations, mitochondrial DNA point mutations, oxidative damage, brain aging, Parkinson's disease, frontal cortex, substantia nigra, transversions, mutational burden, neurodegeneration
MeSH terms: Adolescent, Adult, Aged, Aged, 80 and over, Aging, Cell Line, Child, Child, Preschool, DNA Mutational Analysis, DNA, Mitochondrial, Female, Frontal Bone, Humans, Infant, Male, NADH Dehydrogenase, Parkinson Disease, Substantia Nigra, Case-Control Studies, Polymerase Chain Reaction, Point Mutation, Sequence Analysis, DNA

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Somatic mitochondrial DNA mutations in cortex and substantia nigra in aging and Parkinson’s disease

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