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Alzheimer's brains harbor somatic mtDNA control-region mutations that suppress mitochondrial transcription and replication
Open accessAbstract
Defects in mitochondrial oxidative phosphorylation have frequently been associated with Alzheimer's disease (AD), and both inherited and somatic mtDNA mutations have been reported in certain AD cases. To determine whether mtDNA mutations contribute more generally to the etiology of AD, we have investigated the sequence of the mtDNA control region (CR) from AD brains for possible disease-causing mutations. Sixty-five percent of the AD brains harbored the T414G mutation, whereas this mutation was absent from all controls. Moreover, cloning and sequencing of the mtDNA CR from patient and control brains revealed that all AD brains had an average 63% increase in heteroplasmic mtDNA CR mutations and that AD brains from patients 80 years and older had a 130% increase in heteroplasmic CR mutations. In addition, these mutations preferentially altered known mtDNA regulatory elements. Certain AD brains harbored the disease-specific CR mutations T414C and T477C, and several AD brains between 74 and 83 years of age harbored the CR mutations T477C, T146C, and T195C, at levels up to 70-80% heteroplasmy. AD patient brains also had an average 50% reduction in the mtDNA L-strand ND6 transcript and in the mtDNA/nuclear DNA ratio. Because reduced ND6 mRNA and mtDNA copy numbers would reduce brain oxidative phosphorylation, these CR mutations could account for some of the mitochondrial defects observed in AD.
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“which has been described in an AD brain [169,170] in which base deletions correlate with complex IV deficiency in an AD hippocampus [171].”
From Mitochondrial Oxidative and Nitrosative Stress and Alzheimer Disease (2020) · cites this paper as [170]
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Citations
Cites
The genetical theory of natural selection
Fisher, R. A. (1930) · doi:10.5962/bhl.title.27468 · Cited by 17,617
Natural Selection of Parental Ability to Vary the Sex Ratio of Offspring
Trivers, R. L., & Willard, D. E. (1973) · Science · doi:10.1126/science.179.4068.90 · Cited by 3,822
Hamilton, W. D. O. (1967) · Science · doi:10.1126/science.156.3774.477 · Cited by 3,605
Charnov, E. L. (1982) · PubMed · Cited by 2,886
Identification Guide to European Passerines
Sevensson, L. (1975) · Medical Entomology and Zoology · Cited by 2,561
ABAD Directly Links Aß to Mitochondrial Toxicity in Alzheimer's Disease
Lustbader, J. W., Cirilli, M., Lin, C., Xu, H. W., Takuma, K., Wang, N., Caspersen, C., Chen, X., Pollak, S., Chaney, M., et al. (2004) · Science · doi:10.1126/science.1091230 · Cited by 1,303
Huang, X., Atwood, C., Hartshorn, M. A., Multhaup, G., Goldstein, L. E., Scarpa, R. C., Cuajungco, M. P., Gray, D. N., Lim, J. T., Moir, R. D., et al. (1999) · Biochemistry · doi:10.1021/bi990438f · Cited by 1,117
MITOCHONDRIAL DNA MAINTENANCE IN VERTEBRATES
Shadel, G. S., & Clayton, D. A. (1997) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.66.1.409 · Cited by 1,059
Tracing European Founder Lineages in the Near Eastern mtDNA Pool
Richards, M. B., Macaulay, V. A., Hickey, E., Vega, E., Sykes, B. C., Guida, V., Rengo, C., Sellitto, D., Cruciani, F., Kivisild, T., et al. (2000) · The American Journal of Human Genetics · doi:10.1016/s0002-9297(07)62954-1 · Cited by 952
Sex Ratio and Local Resource Competition in a Prosimian Primate
Clark, A. B. (1978) · Science · doi:10.1126/science.201.4351.163 · Cited by 910
Research works printed but not linked: 1
- Gibson, G. E. & Huang, H. M. (2002) Front. Biosci. 7, d1007-d1015.11897553
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Xu, S., Zhou, Z., Zhang, L., Yu, Z., Zhang, W., Wang, Y., Wang, X., Li, M., Chen, Y., Chen, C., et al. (2009) · Brain Research · doi:10.1016/j.brainres.2009.10.062 · Cited by 149
Iuso, A., Scacco, S., Piccoli, C., Bellomo, F., Petruzzella, V., Trentadue, R., Minuto, M. N., Ripoli, M. C., Capitanio, N., Zeviani, M., et al. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m513387200 · Cited by 149
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Santoro, A., Balbi, V., Balducci, E., Pirazzini, C., Rosini, F., Tavano, F., Achilli, A., Siviero, P., Minicuci, N., Bellavista, E., et al. (2010) · PLoS ONE · doi:10.1371/journal.pone.0012037 · Cited by 134
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Silva, D. F., Selfridge, J. E., Lu, J., E, L., Roy, N., Hutfles, L., Burns, J. M., Michaelis, E. K., Yan, S., Cardoso, S. M., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt247 · Cited by 133
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Alzheimer's disease: diverse aspects of mitochondrial malfunctioning.
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Mitochondrial failures in Alzheimer's disease
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Agujetas, V. R., Barbero‐Camps, E., de Dios, C., Podlesniy, P., Abadin, X., Morales, A., Marı́, M., Trullás, R., & Colell, A. (2021) · Molecular Neurodegeneration · doi:10.1186/s13024-021-00435-6 · Cited by 113
Gómez-Durán, A., Pacheu‐Grau, D., Martínez‐Romero, Í., López‐Gallardo, E., López-Pérez, M. J., Montoya, J., & Ruiz‐Pesini, E. (2012) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2012.04.014 · Cited by 110
Klein, H., Trumpff, C., Yang, H., Lee, A., Picard, M. A., Bennett, D. A., & Jager, P. L. D. (2021) · Molecular Neurodegeneration · doi:10.1186/s13024-021-00495-8 · Cited by 110
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Chinopoulos, C., Gerencser, A. A., Mandi, M., Mathe, K., Töröcsik, B., Doczi, J., Turiak, L., Kiss, G., Konràd, C., Vajda, S., et al. (2010) · The FASEB Journal · doi:10.1096/fj.09-149898 · Cited by 103
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Evidence for frequent and tissue-specific sequence heteroplasmy in human mitochondrial DNA
Naue, J., Hörer, S., Sänger, T., Strobl, C., Hatzer-Grubwieser, P., Parson, W., & Lutz‐Bonengel, S. (2014) · Mitochondrion · doi:10.1016/j.mito.2014.12.002 · Cited by 104
Li, H., Slone, J. D., Fei, L., & Huang, T. (2019) · Cells · doi:10.3390/cells8060608 · Cited by 106
Hoekstra, J. G., Hipp, M. J., Montine, T. J., & Kennedy, S. R. (2016) · Annals of Neurology · doi:10.1002/ana.24709 · Cited by 108
Mitochondrial DNA, base excision repair and neurodegeneration
de Souza-Pinto, N. C., Wilson, D. M., Stevnsner, T., & Bohr, V. A. (2008) · DNA repair · doi:10.1016/j.dnarep.2008.03.011 · Cited by 102
Analysis of cancer genomes reveals basic features of human aging and its role in cancer development
Podolskiy, D. I., Lobanov, A. V., Kryukov, G. V., & Gladyshev, V. N. (2016) · Nature Communications · doi:10.1038/ncomms12157 · Cited by 100
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Weidling, I. W., & Swerdlow, R. H. (2020) · Experimental Neurology · doi:10.1016/j.expneurol.2020.113321 · Cited by 104
Quan, S., Fu, X., Cai, H., Ren, Z., Xu, Y., & Jia, L. (2025) · Molecular Neurodegeneration · doi:10.1186/s13024-025-00815-2 · Cited by 110
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Elson, J., Herrnstadt, C., Preston, G., Thal, L., Morris, C., Edwardson, J., Beal, M. F., Turnbull, D., & Howell, N. (2006) · Human Genetics · doi:10.1007/s00439-005-0123-8 · Cited by 116
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Aliabadi, F., Sohrabi, B., Mostafavi, E., Pazoki–Toroudi, H., & Webster, T. J. (2021) · Open Biology · doi:10.1098/rsob.200390 · Cited by 101
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Ma, J., Jiang, T., Tan, L., & Yu, J.-T. (2015) · Molecular Neurobiology · doi:10.1007/s12035-014-8811-9 · Cited by 113
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Association between mitochondrial DNA variations and Alzheimer's disease in the ADNI cohort
Lakatos, A., Derbeneva, O. A., Younes, D., Keator, D. B., Bakken, T. E., Lvova, M., Brandon, M. C., Guffanti, G., Reglődi, D., Saykin, A. J., et al. (2010) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2010.04.031 · Cited by 97
Mosconi, L., de Leon, M., Murray, J., E, L., Lu, J., Javier, E., McHugh, P., & Swerdlow, R. H. (2011) · Journal of Alzheimer s Disease · doi:10.3233/jad-2011-110866 · Cited by 97
The pseudo-mitochondrial genome influences mistakes in heteroplasmy interpretation
Parr, R. L., Maki, J., Reguly, B., Dakubo, G. D., Aguirre, A., Wittock, R., Robinson, K., Jakupciak, J. P., & Thayer, R. E. (2006) · BMC Genomics · doi:10.1186/1471-2164-7-185 · Cited by 96
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Hermosura, M. C., & Garruto, R. M. (2007) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2007.02.008 · Cited by 94
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Beal, M. F. (2004) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2004.09.022 · Cited by 94
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Gatt, A. P., Duncan, O. F., Attems, J., Francis, P. T., Ballard, C. G., & Bateman, J. E. (2016) · Movement Disorders · doi:10.1002/mds.26513 · Cited by 92
Austad, S. N., Ballinger, S. W., Buford, T. W., Carter, C. S., Smith, D. L., Darley-Usmar, V. M., & Zhang, J. (2021) · Acta Pharmaceutica Sinica B · doi:10.1016/j.apsb.2021.06.014 · Cited by 94
Avital, G., Buchshtav, M., Zhidkov, I., Tuval, J., Dadon, S., Rubin, E., Glass, D., Spector, T. D., & Mishmar, D. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds245 · Cited by 88
mtDNA mutations and common neurodegenerative disorders
Howell, N., Elson, J. L., Chinnery, P. F., & Turnbull, D. M. (2005) · Trends in Genetics · doi:10.1016/j.tig.2005.08.012 · Cited by 90
Xu, S., Zhong, M., Zhang, L., Wang, Y., Zhou, Z., Hao, Y., Zhang, W., Yang, X., Wei, A., Pei, L., et al. (2009) · FEBS Journal · doi:10.1111/j.1742-4658.2009.07094.x · Cited by 90
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Dopaminergic midbrain neurons are the prime target for mitochondrial DNA deletions
Bender, A., Schwarzkopf, R.-M., McMillan, A., Krishnan, K. J., Rieder, G., Neumann, M., Elstner, M., Turnbull, D. M., & Klopstock, T. (2008) · Journal of Neurology · doi:10.1007/s00415-008-0892-9 · Cited by 87
Neuron-Glia Interactions as Therapeutic Targets in Neurodegeneration
Salmina, A. B. (2009) · Journal of Alzheimer s Disease · doi:10.3233/jad-2009-0988 · Cited by 88
Maternal transmission of Alzheimer's disease: prodromal metabolic phenotype and the search for genes
Mosconi, L., Berti, V., Swerdlow, R. H., Pupi, A., Duara, R., & de Leon, M. (2010) · Human Genomics · doi:10.1186/1479-7364-4-3-170 · Cited by 85
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Metadata
- Authors
- Coskun, P. E., Beal, M. F., & Wallace, D. C.
- Affiliations
- University of California, Irvine (US)
- Corresponding author
- Wallace, Douglas C.
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2004-07-09
- Volume
- 101
- Issue
- 29
- Pages
- 10726-10731
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC490002
- OpenAlex
- W2126773395
- Cited by
- 556
- References
- 89
- Citations by year
- 2026: 13 · 2025: 16 · 2024: 14 · 2023: 18 · 2022: 35 · 2021: 38 · 2020: 28 · 2019: 25 · 2018: 18 · 2017: 16 · 2016: 23 · 2015: 15 · 2014: 19 · 2013: 30 · 2012: 24
- FWCI
- 11.29
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Ellison Medical Foundation
- Emory University
- National Institutes of Health
- University of California, Irvine
- National Institute on Aging (R01AG020729, AG-13154, AG 20729, R01AG013154)
- National Institute of Neurological Disorders and Stroke (NS-21328, R01NS021328)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Keywords
- Alzheimer's disease, mitochondrial DNA, mitochondrial DNA control region, somatic mutations, heteroplasmy, mitochondrial transcription, mitochondrial DNA replication, oxidative phosphorylation, mitochondrial DNA copy number, brain aging
- MeSH terms
- Aged, Aged, 80 and over, Alzheimer Disease, Brain, DNA Mutational Analysis, DNA Replication, DNA, Mitochondrial, Humans, Mutation, Oxidative Phosphorylation, Transcription, Genetic, Locus Control Region
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