Cited by 890Mitochondrial Function and PathologyGenetics, Aging, and Longevity in Model OrganismsParkinson's Disease Mechanisms and Treatments

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Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age

Corral-Debrinski, Marisol, Horton, Terzah, Lott, Marie T., Shoffner, John M., Flint Beal, M., Wallace, Douglas C.·1992·Nature Genetics

DOI 10.1038/ng1292-324

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Abstract

We have examined the role of somatic mitochondrial DNA (mtDNA) mutations in human ageing by quantitating the accumulation of the common 4977 nucleotide pair (np) deletion (mtDNA4977) in the cortex, putamen and cerebellum. A significant increase in the mtDNA4977 deletion was seen in elderly individuals. In the cortex, the deleted to total mtDNA ratio ranged from 0.00023 to 0.012 in 67-77 year old brains and up to 0.034 in subjects over 80. In the putamen, the deletion level ranged from 0.0016 to 0.010 in 67 to 77 years old up to 0.12 in individuals over the age of 80. The cerebellum remained relatively devoid of mtDNA deletions. Similar changes were observed with a different 7436 np deletion. These changes suggest that somatic mtDNA deletions might contribute to the neurological impairment often associated with ageing.

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Biometry: The Principles and Practice of Statistics in Biological Research
Sokal, R. R., & Rohlf, F. J. (1969) · Cited by 20,963
The Consortium to Establish a Registry for Alzheimer's Disease (CERAD): Part II. Standardization of the neuropathologic assessment of Alzheimer's disease
Mirra, S. S., Heyman, A., McKeel, D., Sumi, S. M., Crain, B. J., Brownlee, L. M., Vogel, F. S., Hughes, J. P., Belle, G. V., Berg, L., et al. (1991) · Neurology · doi:10.1212/wnl.41.4.479 · Cited by 4,961
Normal oxidative damage to mitochondrial and nuclear DNA is extensive.
Richter, C., Park, J. W., & Ames, B. N. (1988) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.85.17.6465 · Cited by 1,730
Prevalence of Alzheimer's disease in a community population of older persons. Higher than previously reported
Evans, D. A. (1989) · JAMA · doi:10.1001/jama.262.18.2551 · Cited by 1,627
Diseases of the mitochondrial DNA
Wallace, D. C. (1992) · Annual Review of Biochemistry · doi:10.1146/annurev.bi.61.070192.005523 · Cited by 1,319
Self-citation
Mitochondrial Genetics: A Paradigm for Aging and Degenerative Diseases?
Wallace, D. C. (1992) · Science · doi:10.1126/science.1533953 · Cited by 1,262
Self-citation
Prevalence of Alzheimer's Disease in a Community Population of Older Persons: Higher Than Previously Reported
Evans, D. A. (1989) · JAMA · doi:10.1001/jama.1989.03430180093036 · Cited by 1,226
Mitochondrial DNA mutations as an important contributor to ageing and degenerative diseases
Linnane, A., Ozawa, T., Marzuki, S., & Tanaka, M. (1989) · The Lancet · doi:10.1016/s0140-6736(89)92145-4 · Cited by 983
Detection of a specific mitochondrial DNA deletion in tissues of older humans
Cortopassi, G. A., & Arnheim, N. (1990) · Nucleic Acids Research · doi:10.1093/nar/18.23.6927 · Cited by 788
Decline in skeletal muscle mitochondrial respiratory chain function: possible factor in ageing
Trounce, I., Byrne, E., & Marzuki, S. (1989) · The Lancet · doi:10.1016/s0140-6736(89)92143-0 · Cited by 730

Show all 43 references

Research works printed but not linked: 4

Muller-Hocker, J. Cytochrome-c-oxidase deficient cardiomyocytes in the human heart. Am. J. Pathol. 134, 1167–1173 (1989).
Chawluk, J.B., Alavi, A. & Jamieson, D.G. Changes in local cerebral glucose metabolism with normal ageing: the effect of cardiovascular and systemic health factors. J. Cereb. Blood Flow Metab. 7, S411 (1987).
Morris, J.C. & McManus, D.Q. The neurology of ageing: Normal versus pathological changes. Geriatrics 46, 47–54 (1991).
Harman, D. in Free radical ageing and degenerative diseases. (eds Johson J.E., Jr. et al.) 3–49 (Alan R. Liss, New York, 1986).

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Self-citation
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Phillips, A. F., Millet, A. R., Tigano, M., Dubois, S. M., Crimmins, H., Babin, L., Charpentier, M., Piganeau, M., Brunet, E., & Sfeir, A. J. (2017) · Molecular Cell · doi:10.1016/j.molcel.2016.12.014 · Cited by 147
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Human brain contains high levels of heteroplasmy in the noncoding regions of mitochondrial DNA.
JAZIN, E. E., Cavelier, L. B., Eriksson, I., Oreland, L., & Gyllensten, U. (1996) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.93.22.12382 · Cited by 144
Role of mitochondrial dysfunction and mitochondrial DNA mutations in age-related hearing loss
Yamasoba, T., Someya, S., Yamada, C., Weindruch, R. H., Prolla, T. A., & Tanokura, M. (2006) · Hearing Research · doi:10.1016/j.heares.2006.06.004 · Cited by 146
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Chien, K. R., & Karsenty, G. (2005) · Cell · doi:10.1016/j.cell.2005.02.006 · Cited by 143
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Hartmann, N., Reichwald, K., Wittig, I., Dröse, S., Schmeisser, S., Lück, C., Hahn, C., Graf, M., Gausmann, U., Tozzini, E. T., et al. (2011) · Aging Cell · doi:10.1111/j.1474-9726.2011.00723.x · Cited by 144
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Johnston, W. S. W., Karpati, G., Carpenter, S., Arnold, D. L., & Shoubridge, E. A. (1995) · Annals of Neurology · doi:10.1002/ana.410370106 · Cited by 140
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Age‐dependent decline of DNA repair activity for oxidative lesions in rat brain mitochondria
Chen, D., Cao, G., Hastings, T. G., Feng, Y., Pei, W., O'Horo, C., & Chen, J. (2002) · Journal of Neurochemistry · doi:10.1046/j.1471-4159.2002.00916.x · Cited by 139
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Laar, V. S. V., & Berman, S. (2009) · Experimental Neurology · doi:10.1016/j.expneurol.2009.03.019 · Cited by 141
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Wallace, K. B. (1997) · Fundamental and Applied Toxicology · doi:10.1006/faat.1997.2320 · Cited by 132
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Duce, J. A., Podvin, S., Hollander, W., Kipling, D., Rosene, D. L., & Abraham, C. R. (2007) · Glia · doi:10.1002/glia.20593 · Cited by 134
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Liang, K. J., & Carlson, E. S. (2019) · Neurobiology of Learning and Memory · doi:10.1016/j.nlm.2019.01.004 · Cited by 131
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Meißner, C., & Ritz‐Timme, S. (2010) · Forensic Science International · doi:10.1016/j.forsciint.2010.07.010 · Cited by 135
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Wallace, D. C. (1993) · Trends in Genetics · doi:10.1016/0168-9525(93)90207-x · Cited by 130
Self-citation
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Naoi, M., & Maruyama, W. (1999) · Mechanisms of Ageing and Development · doi:10.1016/s0047-6374(99)00064-0 · Cited by 129
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Máximo, V., & Sobrinho-Simões, M. A. (2000) · Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · doi:10.1007/s004280000219 · Cited by 129
Mitochondrial DNA analysis: polymorphisms and pathogenicity
Chinnery, P. F., Howell, N., Andrews, R. M., & Turnbull, D. M. (1999) · Journal of Medical Genetics · doi:10.1136/jmg.36.7.505 · Cited by 129
Human aging is associated with stochastic somatic mutations of mitochondrial DNA
Kadenbach, B., Münscher, C., Frank, V., Müller‐Höcker, J., & Napiwotzki, J. (1995) · Mutation Research/DNAging · doi:10.1016/0921-8734(95)00021-w · Cited by 125
Bioenergetic Origins of Complexity and DiseasePreprint
Wallace, D. C. (2011) · Cold Spring Harbor Symposia on Quantitative Biology · doi:10.1101/sqb.2011.76.010462 · Cited by 132
Self-citation
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Kato, T., Stine, O. C., McMahon, F. J., & Crowe, R. (1997) · Biological Psychiatry · doi:10.1016/s0006-3223(97)00012-7 · Cited by 124
Mitochondrial dysfunction and Alzheimer's disease
Maruszak, A., & Żekanowski, C. (2010) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2010.07.004 · Cited by 124
Mitochondrial Dysfunction during Brain Aging: Role of Oxidative Stress and Modulation by Antioxidant Supplementation.
Chakrabarti, S., Munshi, S., Banerjee, K., Thakurta, I. G., Sinha, M. S., & Bagh, M. B. (2011) · Europe PMC (PubMed Central) · Cited by 122
There is substantial agreement among interspecies estimates of DNA repair activity
Cortopassi, G. A., & Wang, E. (1996) · Mechanisms of Ageing and Development · doi:10.1016/s0047-6374(96)01788-5 · Cited by 122
Mitochondrial DNA Deletions/Rearrangements in Parkinson Disease and Related Neurodegenerative Disorders
Gu, G., Reyes, P. F., Golden, G. T., Woltjer, R. L., Hulette, C., Montine, T. J., & Zhang, J. (2002) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/61.7.634 · Cited by 122
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Marcelino, L. A., & Thilly, W. G. (1999) · Mutation Research/DNA Repair · doi:10.1016/s0921-8777(99)00028-2 · Cited by 123
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Lee, C. M., Lopez, M. E., Weindruch, R. H., & Aiken, J. M. (1998) · Free Radical Biology and Medicine · doi:10.1016/s0891-5849(98)00185-3 · Cited by 121
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Cortopassi, G. A., & Wang, E. (1995) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/0925-4439(95)00025-y · Cited by 121
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Muravchick, S., Levy, R. J., & Warltier, D. C. (2006) · Anesthesiology · doi:10.1097/00000542-200610000-00029 · Cited by 122
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Hayashi, J., Ohta, S., Kagawa, Y., Kondo, H., Kaneda, H., Yonekawa, H., Takai, D., & Miyabayashi, S. (1994) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)37457-4 · Cited by 118
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Increased frequency of deletions in the mitochondrial genome with age ofCaenorhabditis elegans
Melov, S., Lithgow, G. J., Fischer, D. R., Tedesco, P., & Johnson, T. E. (1995) · Nucleic Acids Research · doi:10.1093/nar/23.8.1419 · Cited by 116

Authors: Corral-Debrinski, M., Horton, T., Lott, M. T., Shoffner, J. M., Flint Beal, M., & Wallace, D. C.
Affiliations: Emory University (US)
ORCID: Horton, Terzah
Lott, Marie T.
Shoffner, John M.
Wallace, Douglas C.
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 1992-12
Volume: 2
Issue: 4
Pages: 324-329
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/ng1292-324
OpenAlex: W1973851166
Cited by: 890
References: 43
Citations by year: 2026: 7 · 2025: 9 · 2024: 19 · 2023: 12 · 2022: 25 · 2021: 19 · 2020: 23 · 2019: 36 · 2018: 21 · 2017: 28 · 2016: 21 · 2015: 32 · 2014: 23 · 2013: 32 · 2012: 24
FWCI: 10.05
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Genetics (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Aging › Genetics, Aging, and Longevity in Model Organisms
Health Sciences › Medicine › Clinical Neurology › Parkinson's Disease Mechanisms and Treatments
Keywords: mitochondrial DNA deletions, somatic mtDNA mutations, human aging, brain aging, cerebral cortex, putamen, cerebellum, regional variation, neurological deficit
MeSH terms: Adult, Aged, Aged, 80 and over, Aging, Base Sequence, Brain, DNA Damage, DNA, Mitochondrial, Female, Humans, Male, Molecular Sequence Data, Oxidative Phosphorylation, Tissue Distribution, Sequence Deletion

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Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age

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