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

The DOI matches its Crossref record; 44 of the 44 references it cites were found in a registry or an index.

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

Open this paper in CoChat — free account

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.

Integrity signals

Registry

Crossref · 10.1038/ng1292-324

Cites

44 of 44 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

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

Flagged first, then by citations

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).

Sorted by citations

Items 301–400 of 888

Mitochondrial deficiency in Cockayne syndrome
Scheibye‐Knudsen, M., Croteau, D. L., & Bohr, V. A. (2013) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2013.02.007 · Cited by 82
Altered dopamine metabolism and increased vulnerability to MPTP in mice with partial deficiency of mitochondrial complex I in dopamine neurons
Sterky, F. H., Hoffman, A. F., Milenkovic, D., Bao, B., Paganelli, A., Edgar, D., Wibom, R., Lupica, C. R., Olson, L., & Larsson, N. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr537 · Cited by 77
Mitochondrial DNA point mutations and a novel deletion induced by direct low-LET radiation and by medium from irradiated cells
Murphy, J. E. J., Nugent, S., Seymour, C. B., & Mothersill, C. E. (2005) · Mutation Research/Genetic Toxicology and Environmental Mutagenesis · doi:10.1016/j.mrgentox.2005.04.011 · Cited by 77
Mitochondrial defects in neurodegenerative disease
Wallace, D. C. (2001) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/mrdd.1023 · Cited by 78
Self-citation
Detection and quantitation by competitive PCR of an age-associated increase in a 4.8-kb deletion in rat mitochondrial DNA
Edris, W. A., Burgett, B. L., Stine, O. C., & Filburn, C. R. (1994) · Mutation Research/DNAging · doi:10.1016/0921-8734(94)90009-4 · Cited by 77
Mitochondrial heteroplasmy beyond the oocyte bottleneck
van den Ameele, J., Li, A. Y. Z., Ma, H., & Chinnery, P. F. (2019) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2019.10.001 · Cited by 81
The mitochondrial permeability transition pore: A molecular target for amyotrophic lateral sclerosis therapy
Martin, L. J. (2009) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2009.07.009 · Cited by 80
Melatonin as a mitochondrial protector in neurodegenerative diseases
Wongprayoon, P., & Govitrapong, P. (2017) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-017-2614-x · Cited by 76
Vitamins Associated with Brain Aging, Mild Cognitive Impairment, and Alzheimer Disease: Biomarkers, Epidemiological and Experimental Evidence, Plausible Mechanisms, and Knowledge Gaps
Fenech, M. F. (2017) · Advances in Nutrition · doi:10.3945/an.117.015610 · Cited by 76
Detection of deletions in the mitochondrial genome ofCaenorhabditis elegans
Melov, S., Hertz, G. Z., Stormo, G. D., & Johnson, T. E. (1994) · Nucleic Acids Research · doi:10.1093/nar/22.6.1075 · Cited by 76
Development of lipophilic cations as therapies for disorders due to mitochondrial dysfunction
Murphy, M. P. (2001) · Expert Opinion on Biological Therapy · doi:10.1517/14712598.1.5.753 · Cited by 76
Deltoid Human Muscle MTDNA Is Extensively Rearranged in Old Age Subjects
Kovalenko, S. A., Kopsidas, G., Kelso, J., & Linnane, A. W. (1997) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1997.6251 · Cited by 76
Defects of the respiratory chain in the normal human liver and in cirrhosis during aging
Müller‐Höcker, J., Aust, D. E., ROHRBACH, H., Napiwotzki, J., Reith, A., Link, T. A., Seibel, P., Hölzel, D., & Kadenbach, B. (1997) · Hepatology · doi:10.1002/hep.510260324 · Cited by 74
Ergothioneine and its prospects as an anti-ageing compound
Apparoo, Y., Phan, C., Kuppusamy, U. R., & Sabaratnam, V. (2022) · Experimental Gerontology · doi:10.1016/j.exger.2022.111982 · Cited by 73
Pathophysiological and pharmacological implications of mitochondria-targeted reactive oxygen species generation in astrocytes
Jou, M. (2008) · Advanced Drug Delivery Reviews · doi:10.1016/j.addr.2008.06.004 · Cited by 73
Mitochondrial metabolism and aging in the filamentous fungus Podospora anserina
Lorin, S., Dufour, É., & Sainsard‐Chanet, A. (2006) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2006.03.005 · Cited by 73
A Role for Mitochondrial DNA Review and Sperm Survival
John, J. C. S., Sakkas, D., & Barratt, C. L. R. (2000) · Journal of Andrology · doi:10.1002/j.1939-4640.2000.tb02093.x · Cited by 73
Replicative Senescence Induced by Romo1-derived Reactive Oxygen Species
Chung, Y. M., Lee, S. B., Kim, H. J., Park, S. H., Kim, J. J., Chung, J. S., & Yoo, Y. D. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.m805334200 · Cited by 73
Quantitative analysis of mitochondrial DNA deletions in the brains of patients with bipolar disorder and schizophrenia
Kakiuchi, C., Ishiwata, M., Kametani, M., Nelson, C., Iwamoto, K., & Kato, T. (2005) · The International Journal of Neuropsychopharmacology · doi:10.1017/s1461145705005213 · Cited by 72
Understanding the Multiple Role of Mitochondria in Parkinson’s Disease and Related Disorders: Lesson From Genetics and Protein–Interaction Network
Nicoletti, V., Palermo, G., Prete, E. D., Mancuso, M., & Ceravolo, R. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.636506 · Cited by 75
The other, forgotten genome: mitochondrial DNA and mental disorders
Kato, T. (2001) · Molecular Psychiatry · doi:10.1038/sj.mp.4000926 · Cited by 72
Mitochondrial DNA 4977 bp deletion and OH 8 dG levels correlate in the brain of aged subjects but not Alzheimer's disease patients
Lezza, A. M. S., Mecocci, P., Cormio, A., Real, M. F., Cherubini, A., Cantatore, P., Senin, U., & Gadaleta, M. N. (1999) · The FASEB Journal · doi:10.1096/fasebj.13.9.1083 · Cited by 72
Invertebrate gerontology: The age mutations of Caenorhabditis elegans
Lithgow, G. J. (1996) · BioEssays · doi:10.1002/bies.950181007 · Cited by 72
mtDNA Mutations and Their Role in Aging, Diseases and Forensic Sciences
Zapico, S. C. (2013) · Aging and Disease · doi:10.14336/ad.2013.0400364 · Cited by 78
Recent Progress in Vascular Aging: Mechanisms and Its Role in Age-related Diseases
Xu, X., Wang, B. Z., Ren, C., Hu, J., Greenberg, D. A., Chen, T., Xie, L., & Jin, K. (2017) · Aging and Disease · doi:10.14336/ad.2017.0507 · Cited by 72
Toward Understanding the Molecular Pathology of Huntington's Disease
Wellington, C. L., Brinkman, R. R., OʼKusky, J. R., & Hayden, M. R. (1997) · Brain Pathology · doi:10.1111/j.1750-3639.1997.tb00897.x · Cited by 71
Origins of mtDNA mutations in ageing
Szczepanowska, K., & Trifunović, A. (2017) · Essays in Biochemistry · doi:10.1042/ebc20160090 · Cited by 69
Human mitochondrial transcription factor A binds preferentially to oxidatively damaged DNA
Yoshida, Y., Izumi, H., Ise, T., Uramoto, H., Torigoe, T., Ishiguchi, H., Murakami, T., Tanabe, M., Nakayama, Y., Itoh, H., et al. (2002) · Biochemical and Biophysical Research Communications · doi:10.1016/s0006-291x(02)00757-x · Cited by 72
Cytochrome c oxidase defects of the human substantia nigra in normal aging
Itoh, K., Weis, S., Mehraein, P., & Müller‐Höcker, J. (1996) · Neurobiology of Aging · doi:10.1016/s0197-4580(96)00168-6 · Cited by 70
Lacticacidemia
Robinson, B. H. (1993) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/0925-4439(93)90064-8 · Cited by 70
The impact of age-related dysregulation of the angiotensin system on mitochondrial redox balance
Vajapey, R. S., Rini, D. A., Walston, J. D., & Abadir, P. M. (2014) · Frontiers in Physiology · doi:10.3389/fphys.2014.00439 · Cited by 70
Mitochondrial DNA damage and the aging process–facts and imaginations
Wiesner, R. J., Zsurka, G., & Kunz, W. S. (2006) · Free Radical Research · doi:10.1080/10715760600913168 · Cited by 69
Quantification of human mitochondrial DNA in a real time PCR
von Wurmb‐Schwark, N., Higuchi, R., Fenech, A. P., Elfstroem, C., Meißner, C., Oehmichen, M., & Cortopassi, G. A. (2002) · Forensic Science International · doi:10.1016/s0379-0738(02)00026-9 · Cited by 68
Long PCR Analysis of Human Gamete mtDNA Suggests Defective Mitochondrial Maintenance in Spermatozoa and Supports the Bottleneck Theory for Oocytes
Reynier, P., Chrétien, M.-F., Savagner, F., Larcher, G., Rohmer, V., Barrière, P., & Malthièry, Y. (1998) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1998.9651 · Cited by 68
Multiple age-associated mitochondrial DNA deletions in skeletal muscle of mice
Chung, S. S., Weindruch, R. H., Schwarze, S. R., McKenzie, D. I., & Aiken, J. M. (1994) · Aging Clinical and Experimental Research · doi:10.1007/bf03324239 · Cited by 68
Mitochondrial Quality Control via Mitochondrial Unfolded Protein Response (mtUPR) in Ageing and Neurodegenerative Diseases
Cilleros-Holgado, P., Gómez-Fernández, D., Piñero-Pérez, R., Romero-Domínguez, J. M., Reche-López, D., López-Cabrera, A., Álvarez-Córdoba, M., Munuera-Cabeza, M., Talaverón-Rey, M., Suárez-Carrillo, A., et al. (2023) · Biomolecules · doi:10.3390/biom13121789 · Cited by 68
155th ENMC workshop: Polymerase gamma and disorders of mitochondrial DNA synthesis, 21–23 September 2007, Naarden, The Netherlands
Chinnery, P. F., & Zeviani, M. (2007) · Neuromuscular Disorders · doi:10.1016/j.nmd.2007.11.005 · Cited by 67
Visualizing common deletion of mitochondrial DNA-augmented mitochondrial reactive oxygen species generation and apoptosis upon oxidative stress
Peng, T., Yu, P.-R., Chen, J., Wang, H., Wu, H.-Y., Wei, Y., & Jou, M. (2005) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2005.10.008 · Cited by 70
Isolation of Mitochondrial DNA-less Mouse Cell Lines and Their Application for Trapping Mouse Synaptosomal Mitochondrial DNA with Deletion Mutations
Inoue, K., Ito, S., Takai, D., Soejima, A., Shisa, H., Pecq, J. L., Segal-Bendirdjian, E., Kagawa, Y., & Hayashi, J. (1997) · Journal of Biological Chemistry · doi:10.1074/jbc.272.24.15510 · Cited by 67
Ageing‐associated tandem duplications in the D‐loop of mitochondrial DNA of human muscle
Lee, H., Pang, C., Hsu, H., & Wei, Y. (1994) · FEBS Letters · doi:10.1016/0014-5793(94)01063-3 · Cited by 67
Mitochondria-targeted drug delivery system for cancer treatment
Chen, Z., Li, M., Zhang, L.-J., He, J., Wu, L., Xiao, Y., Duan, J., Cai, T., & Li, W. (2015) · Journal of drug targeting · doi:10.3109/1061186x.2015.1108325 · Cited by 66
Genetic Pathways of Aging and Their Relevance in the Dog as a Natural Model of Human Aging
Sándor, S., & Kubinyi, E. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00948 · Cited by 68
Molecular genetics in neurology
Martin, J. B. (1993) · Annals of Neurology · doi:10.1002/ana.410340603 · Cited by 66
Mitochondrial myopathies
Larsson, N. ‐., & Oldfors, A. (2001) · Acta Physiologica Scandinavica · doi:10.1046/j.1365-201x.2001.00842.x · Cited by 65
Differential age-related changes in mitochondrial DNA repair activities in mouse brain regions
Gredilla, R., Garm, C., Holm, R., Bohr, V. A., & Stevnsner, T. (2008) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2008.07.004 · Cited by 65
Leber Hereditary Optic Neuropathy: Exemplar of an mtDNA Disease
Wallace, D. C., & Lott, M. T. (2017) · Handbook of experimental pharmacology · doi:10.1007/164_2017_2 · Cited by 64
Self-citation
Mitochondrial abnormalities in muscle and other aging cells: Classification, causes, and effects
DiMauro, S., Tanji, K., Bonilla, E., Pallotti, F., & Schon, E. A. (2002) · Muscle & Nerve · doi:10.1002/mus.10194 · Cited by 64
Oxidative stress and aging: synergies for age related diseases
Santos, D. F., Simão, S., Nóbrega, C., Bragança, J., Castelo‐Branco, P., & Araújo, I. M. (2024) · FEBS Letters · doi:10.1002/1873-3468.14995 · Cited by 67
Mitochondrial DNA Damage Patterns and Aging: Revising the Evidences for Humans and Mice
Kazachkova, N. (2013) · Aging and Disease · doi:10.14336/ad.2013.0400337 · Cited by 63
Mitochondrial pathobiology in ALS
Martin, L. J. (2011) · Journal of Bioenergetics and Biomembranes · doi:10.1007/s10863-011-9395-y · Cited by 65
Mitochondria and ageing
Cottrell, D. A., & Turnbull, D. M. (2000) · Current Opinion in Clinical Nutrition & Metabolic Care · doi:10.1097/00075197-200011000-00009 · Cited by 64
Huntington's Disease and Dentatorubral‐Pallidoluysian Atrophy: Proteins, Pathogenesis and Pathology
Ross, C. A., Bêcher, M. W., Colomer, V., Engelender, S., Wood, J. D., & Sham, A. H. (1997) · Brain Pathology · doi:10.1111/j.1750-3639.1997.tb00898.x · Cited by 63
Cellular calcium signaling in the aging brain
Remya, C., Kumar, M., Kesavan, L., Jacob, R. S., Gunasekaran, S., Lakshmi, S., Sadasivan, C., & Omkumar, R. V. (2017) · Journal of Chemical Neuroanatomy · doi:10.1016/j.jchemneu.2017.11.008 · Cited by 65
Mitochondrial DNA deletion mutations increase exponentially with age in human skeletal muscle
Herbst, A. J., Lee, C. C., Vandiver, A. R., Aiken, J. M., McKenzie, D. I., Hoang, A. N., Allison, D. B., Liu, N., & Wanagat, J. (2020) · Aging Clinical and Experimental Research · doi:10.1007/s40520-020-01698-7 · Cited by 64
The complicated nature of somatic mtDNA mutations in aging
Sanchez-Contreras, M., & Kennedy, S. R. (2022) · Frontiers in Aging · doi:10.3389/fragi.2021.805126 · Cited by 60
Mutations that affect mitochondrial functions and their association with neurodegenerative diseases
Dhillon, V. S., & Fenech, M. F. (2013) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2013.09.001 · Cited by 61
The universality of bioenergetic disease: The role of mitochondrial mutation and the putative inter-relationship between mitochondria and plasma membrane NADH oxidoreductase
Lawen, A., Martinus, R. D., McMullen, G. L., Nagley, P., Vaillant, F., Wolvetang, E. J., & Linnane, A. W. (1994) · Molecular Aspects of Medicine · doi:10.1016/0098-2997(94)90009-4 · Cited by 61
Germline and somatic mtDNA mutations in mouse aging
Ma, H., Lee, Y., Hayama, T., Dyken, C. V., Martí‐Gutiérrez, N., Li, Y., Ahmed, R., Koski, A., Kang, E., Darby, H., et al. (2018) · PLoS ONE · doi:10.1371/journal.pone.0201304 · Cited by 60
Applications of physiological bases of ageing to forensic sciences. Estimation of age-at-death
Zapico, S. C., & Ubelaker, D. H. V. (2013) · Ageing Research Reviews · doi:10.1016/j.arr.2013.02.002 · Cited by 61
Therapeutic Strategies for Mitochondrial Dysfunction and Oxidative Stress in Age-Related Metabolic Disorders
Bhatti, J. S., Kumar, S., Vijayan, M., Bhatti, G. K., & Reddy, P. H. (2017) · Progress in molecular biology and translational science · doi:10.1016/bs.pmbts.2016.12.012 · Cited by 61
Targeting Mitochondria to Counteract Age-Related Cellular Dysfunction
Madreiter‐Sokolowski, C. T., Sokolowski, A., Waldeck‐Weiermair, M., Malli, R., & Graier, W. F. (2018) · Genes · doi:10.3390/genes9030165 · Cited by 61
Sodium Channels, Mitochondria, and Axonal Degeneration in Peripheral Neuropathy
Persson, A., Hoeijmakers, J. G. J., Estación, M., Black, J. A., & Waxman, S. G. (2016) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2016.03.008 · Cited by 59
Analysis of oxygen consumption and mitochondrial permeability with age in mice
Goodell, S., & Cortopassi, G. A. (1998) · Mechanisms of Ageing and Development · doi:10.1016/s0047-6374(97)00182-6 · Cited by 59
Nuclear-recessive Mutations of Factors Involved in Mitochondrial Translation Are Responsible for Age-related Respiration Deficiency of Human Skin Fibroblasts
Isobe, K., Ito, S., Hosaka, H., Iwamura, Y., Kondo, H., Kagawa, Y., & Hayashi, J. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.8.4601 · Cited by 59
Mitochondrial DNA – all things bad?
Lightowlers, R. N., Jacobs, H. T., & Kajander, O. A. (1999) · Trends in Genetics · doi:10.1016/s0168-9525(98)01684-9 · Cited by 59
Astrocytes in aging
Labarta-Bajo, L., & Allen, N. J. (2025) · Neuron · doi:10.1016/j.neuron.2024.12.010 · Cited by 62
The Frequency of Point Mutations in Mitochondrial DNA Is Elevated in the Alzheimer's Brain
Chang, S.-W., Zhang, D., Chung, H. D., & Zassenhaus, H. P. (2000) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.2000.2885 · Cited by 58
A novel diagnostic tool reveals mitochondrial pathology in human diseases and aging
Scheibye‐Knudsen, M., Scheibye-Alsing, K., Canugovi, C., Croteau, D. L., & Bohr, V. A. (2013) · Aging · doi:10.18632/aging.100546 · Cited by 57
Lysosomal function in macromolecular homeostasis and bioenergetics in Parkinson's disease
Schneider, L. E., & Zhang, J. (2010) · Molecular Neurodegeneration · doi:10.1186/1750-1326-5-14 · Cited by 59
Mitochondrial dynamics and aging: Mitochondrial interaction preventing individuals from expression of respiratory deficiency caused by mutant mtDNA
Sato, A., Nakada, K., & Hayashi, J. (2006) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2006.03.001 · Cited by 57
Mitochondrial haplogroup H1 is protective for ischemic stroke in Portuguese patients
Rosa, A., Fonseca, B. V., Krug, T., Manso, H., Gouveia, L. O., Albergaria, I., Gaspar, G., Correia, M. A., Baptista, M. V., Simões, R. M., et al. (2008) · BMC Medical Genetics · doi:10.1186/1471-2350-9-57 · Cited by 57
Is There Still Any Role for Oxidative Stress in Mitochondrial DNA-Dependent Aging?
Zsurka, G., Peeva, V., Kotlyar, A. B., & Kunz, W. S. (2018) · Genes · doi:10.3390/genes9040175 · Cited by 60
Replication Stress at Telomeric and Mitochondrial DNA: Common Origins and Consequences on Ageing
Billard, P., & Poncet, D. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20194959 · Cited by 61
Changes in the human mitochondrial genome after treatment of malignant disease
Wardell, T. M., Ferguson, E., Chinnery, P. F., Borthwick, G. M., Taylor, R. W., Jackson, G. H., Craft, A. W., Lightowlers, R. N., Howell, N., & Turnbull, D. M. (2003) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/s0027-5107(02)00313-5 · Cited by 57
Mitochondrial genome organization
Wolstenholme, D. R., & Fauron, C. M. ‐. (1995) · Advances in cellular and molecular biology of plants · doi:10.1007/978-94-011-0163-9_1 · Cited by 57
Age-Related Mitochondrial DNA Deletions
Kang, C., Kristal, B. S., & Yu, B. P. (1998) · Free Radical Biology and Medicine · doi:10.1016/s0891-5849(97)00204-9 · Cited by 57
Brain somatic mutations: the dark matter of psychiatric genetics?
Insel, T. R. (2013) · Molecular Psychiatry · doi:10.1038/mp.2013.168 · Cited by 56
Mitochondrial Dysfunction and Stress Responses in Alzheimer’s Disease
Weidling, I. W., & Swerdlow, R. H. (2019) · Biology · doi:10.3390/biology8020039 · Cited by 59
Mitochondrial Dysfunction and Parkinson’s Disease—Near-Infrared Photobiomodulation as a Potential Therapeutic Strategy
Foo, A. S. C., Soong, T. W., Yeo, T. T., & Lim, K. (2020) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2020.00089 · Cited by 58
Identification of somatic and germline mitochondrial DNA sequence variants in prostate cancer patients
Gómez‐Zaera, M., Abril, J., González, L., Aguiló, F., Condom, E., Nadal, M., & Nunes, V. (2006) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2005.10.012 · Cited by 56
Estimation of age at death based on quantitation of the 4977-bp deletion of human mitochondrial DNA in skeletal muscle
Meißner, C., von Wurmb, N., Schimansky, B., & Oehmichen, M. (1999) · Forensic Science International · doi:10.1016/s0379-0738(99)00126-7 · Cited by 56
Mitochondrial DNA sequences are present inside nuclear DNA in rat tissues and increase with age
Caro, P., Gómez, J., Arduini, A., González-Sánchez, M., González-García, M., Borrás, C., Viña, J., Puertas, M. J., Sastre, J., & Barja, G. (2010) · Mitochondrion · doi:10.1016/j.mito.2010.05.004 · Cited by 56
Hashimoto Thyreoiditis Is Associated with Defects of Cytochrome-c Oxidase in Oxyphil Askanazy Cells and with the Common Deletion (4,977) of Mitochondrial DNA
Miiller-Hocker, J., Jacob, U., & Seibel, P. (1998) · Ultrastructural Pathology · doi:10.3109/01913129809032263 · Cited by 56
Mitochondrial Dysfunction in Neurodegenerative Disorders and Ageing
Turner, C., & Schapira, A. H. V. (2001) · Advances in experimental medicine and biology · doi:10.1007/978-1-4615-1249-3_19 · Cited by 56
Mitochondrial dysfunction in skeletal muscle contributes to the development of acute insulin resistance in mice
Lee, H., Ha, T. Y., Jung, C. H., Nirmala, F. S., Park, S., Huh, Y. H., & Ahn, J. (2021) · Journal of Cachexia Sarcopenia and Muscle · doi:10.1002/jcsm.12794 · Cited by 56
Parkin does not prevent accelerated cardiac aging in mitochondrial DNA mutator mice
Woodall, B. P., Orogo, A. M., Najor, R. H., Cortez, M. Q., Moreno, E. R., Wang, H., Divakaruni, A. S., Murphy, A. N., & Gustafsson, Å. B. (2019) · JCI Insight · doi:10.1172/jci.insight.127713 · Cited by 55
Mitochondrial DNA Mutations in Epilepsy and Neurological Disease
Wallace, D. C., Lott, M. T., Shoffner, J. M., & Ballinger, S. W. (1994) · Epilepsia · doi:10.1111/j.1528-1157.1994.tb05928.x · Cited by 55
Self-citation
Accumulation of somatic mutation in mitochondrial DNA extracted from peripheral blood cells in diabetic patients
Nomiyama, T., Tanaka, Y., Hattori, N., Nishimaki, K., Nagasaka, K., Kawamori, R., & Ohta, S. (2002) · Diabetologia · doi:10.1007/s00125-002-0893-7 · Cited by 55
Somatic Mitochondrial DNA Deletions Accumulate to High Levels in Aging Human Extraocular Muscles
Yu‐Wai‐Man, P., Lai‐Cheong, J. E., Borthwick, G. M., He, L., Taylor, G. A., Greaves, L. C., Taylor, R. W., Griffiths, P. G., & Turnbull, D. M. (2010) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.09-4660 · Cited by 54
Mitochondrial–nuclear epistasis: Implications for human aging and longevity
Tranah, G. J. (2010) · Ageing Research Reviews · doi:10.1016/j.arr.2010.06.003 · Cited by 55
Recent progress of surface-enhanced Raman spectroscopy for subcellular compartment analysis
Shen, Y., Yue, J., Xu, W., & Xu, S. (2021) · Theranostics · doi:10.7150/thno.56409 · Cited by 55
Therapeutic potential of Ganoderma lucidum (Fr.) P. Karst. against the declined antioxidant status in the mitochondria of post-mitotic tissues of aged mice
Sudheesh, N. P., Ajith, T. A., Ramnath, V., & Janardhanan, K. K. (2009) · Clinical Nutrition · doi:10.1016/j.clnu.2009.12.003 · Cited by 54
Maternally transmitted mitochondrial DNA mutations can reduce lifespan
Ross, J. M., Coppotelli, G., Hoffer, B. J., & Olson, L. (2014) · Scientific Reports · doi:10.1038/srep06569 · Cited by 53
Staying young at heart: autophagy and adaptation to cardiac aging
Leon, L. J., & Gustafsson, Å. B. (2015) · Journal of Molecular and Cellular Cardiology · doi:10.1016/j.yjmcc.2015.11.006 · Cited by 53
Mitochondrial links between brain aging and Alzheimer’s disease
Wilkins, H., & Swerdlow, R. H. (2021) · Translational Neurodegeneration · doi:10.1186/s40035-021-00261-2 · Cited by 53
Mutations in mitochondrial‐encoded cytochrome c oxidase subunits I, II, and III genes detected in Alzheimer's disease using single‐strand conformation polymorphism
Hamblet, N. S., Ragland, B. D., Ali, M. A., Conyers, B., & Castora, F. J. (2005) · Electrophoresis · doi:10.1002/elps.200500420 · Cited by 53
Alcohol-Induced Neuroinflammatory Response and Mitochondrial Dysfunction on Aging and Alzheimer’s Disease
León, B. E., Kang, S., Franca-Solomon, G., Shang, P., & Choi, D. (2022) · Frontiers in Behavioral Neuroscience · doi:10.3389/fnbeh.2021.778456 · Cited by 56
Catecholamine metabolism drives generation of mitochondrial DNA deletions in dopaminergic neurons
Neuhaus, J., Baris, O. R., Heß, S., Moser, N., Schröder, H., Chinta, S. J., Andersen, J. K., Kloppenburg, P., & Wiesner, R. J. (2013) · Brain · doi:10.1093/brain/awt291 · Cited by 52
Mutation and intracellular clonal expansion of mitochondrial genomes: two synergistic components of the aging process?
Kraytsberg, Y., Nekhaeva, E., Bodyak, N. B., & Khrapko, K. (2003) · Mechanisms of Ageing and Development · doi:10.1016/s0047-6374(02)00169-0 · Cited by 52
The aging brain: less neurons could be better
Rutten, B. P. F. (2003) · Mechanisms of Ageing and Development · doi:10.1016/s0047-6374(03)00002-2 · Cited by 52

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

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 ›

Are you an author, or do you see a problem with this page? Request a review

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

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Citations

Cites

Cited by

Related

Metadata

Record

About these checks