Cited by 309Mitochondrial Function and PathologyAlzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

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Marked Changes in Mitochondrial DNA Deletion Levels in Alzheimer Brains

Corral-Debrinski, Marisol, Horton, Terzah, Lott, Marie T., Shoffner, John M., McKee, Ann C., Beal, M.Flint, Graham, Brett H., Wallace, Douglas C.·1994·Genomics

DOI 10.1006/geno.1994.1525

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Abstract

Levels of the common 4977 nucleotide pair (np) mitochondrial DNA (mtDNA) deletion (mtDNA4977) were quantitated in the cortex, putamen, and cerebellum of patients with Alzheimer disease (AD) and compared to age-matched controls. Although cerebellum deletion levels were comparably low in AD patients and controls of all ages, cortical deletion levels were clearly different. The levels of mtDNA deletions in control brains started low, but rose markedly after age 75, while those of AD patients started high and declined to low levels by age 80. Choosing age 75 to arbitrarily delineate between younger and older subjects, younger patients had 15 times more mtDNA deletions than younger controls, while older patients had one-fifth the deletion level of older controls. Younger AD patients also had fourfold more deletions than older AD patients. These results support the hypothesis that OXPHOS defects resulting from somatic mtDNA mutations may play a role in AD pathophysiology.

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“Finally, somatic mtDNA deletions (Corral-Debrinski et al. 1994) and mtDNA control region base substitution mutations (Coskun et al. 2003, 2010) are elevated in AD brains as well as in the brains of Down syndrome patients with dementia (DSAD) (Coskun et al. 2010).”
Background
Commentary Somatic mutations in mitochondria: the chicken or the egg?
Ospelt, C. (2005)
Aus der Neurologischen Klinik und Poliklinik der Ludwig
München, M.-U., & Dieterich, M. (2011)
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Onyango, I. G., & Stokin, G. B. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-819621-2.00015-2
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Author comment: Precision mitochondrial medicine — R0/PR1
Chinnery, P. F. (2022) · Cambridge Prisms Precision Medicine · doi:10.1017/pcm.2022.8.pr1
Recommendation: Precision mitochondrial medicine — R1/PR9
Chinnery, P. F. (2022) · Cambridge Prisms Precision Medicine · doi:10.1017/pcm.2022.8.pr9
Recommendation: Precision mitochondrial medicine — R0/PR4
Chinnery, P. F. (2022) · Cambridge Prisms Precision Medicine · doi:10.1017/pcm.2022.8.pr4
Decision: Precision mitochondrial medicine — R1/PR10
Chinnery, P. F. (2022) · Cambridge Prisms Precision Medicine · doi:10.1017/pcm.2022.8.pr10
Review: Precision mitochondrial medicine — R1/PR7
Chinnery, P. F. (2022) · Cambridge Prisms Precision Medicine · doi:10.1017/pcm.2022.8.pr7
Review: Precision mitochondrial medicine — R0/PR2
Chinnery, P. F. (2022) · Cambridge Prisms Precision Medicine · doi:10.1017/pcm.2022.8.pr2
Decision: Precision mitochondrial medicine — R0/PR5
Chinnery, P. F. (2022) · Cambridge Prisms Precision Medicine · doi:10.1017/pcm.2022.8.pr5
Review: Precision mitochondrial medicine — R1/PR8
Chinnery, P. F. (2022) · Cambridge Prisms Precision Medicine · doi:10.1017/pcm.2022.8.pr8
Review: Precision mitochondrial medicine — R0/PR3
Chinnery, P. F. (2022) · Cambridge Prisms Precision Medicine · doi:10.1017/pcm.2022.8.pr3

Authors: Corral-Debrinski, M., Horton, T., Lott, M. T., Shoffner, J. M., McKee, A. C., Beal, M. F., Graham, B. H., & Wallace, D. C.
Affiliations: Harvard University (US)
ORCID: Horton, Terzah
Lott, Marie T.
Shoffner, John M.
McKee, Ann C.
Graham, Brett H.
Wallace, Douglas C.
Venue: Genomics
Publisher: Elsevier BV
Published: 1994-09
Volume: 23
Issue: 2
Pages: 471-476
ISSN: 0888-7543 (ISSN-L)
DOI: 10.1006/geno.1994.1525
OpenAlex: W2060626022
Cited by: 309
References: 0
Citations by year: 2026: 8 · 2025: 6 · 2024: 11 · 2023: 8 · 2022: 24 · 2021: 6 · 2020: 15 · 2019: 13 · 2018: 13 · 2017: 8 · 2016: 4 · 2015: 9 · 2014: 8 · 2013: 13 · 2012: 10
FWCI: 2.15
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: Genomics (publishedVersion)
PubMed (publishedVersion)
Funders: National Institutes of Health (5f32ca009329-02)
National Institute on Aging (P30AG010130, 1P30AG10130)
National Cancer Institute (CA09329)
National Center for Research Resources (M01-RR00039, M01RR000039)
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: mitochondrial DNA deletions, Alzheimer's disease, somatic mtDNA mutations, brain aging, cortical mitochondria, putamen, cerebellum
MeSH terms: Age Factors, Aged, Aged, 80 and over, Alzheimer Disease, Cerebellum, Cerebral Cortex, DNA Damage, DNA, Mitochondrial, Female, Humans, Male, Middle Aged, Oxidative Phosphorylation, Putamen, Tissue Distribution, Sequence Deletion

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Marked Changes in Mitochondrial DNA Deletion Levels in Alzheimer Brains

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