Cited by 556Mitochondrial Function and PathologyAlzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

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Alzheimer's brains harbor somatic mtDNA control-region mutations that suppress mitochondrial transcription and replication

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Coskun, Pinar E., Beal, M. Flint, Wallace, Douglas C.·2004·Proceedings of the National Academy of Sciences

DOI 10.1073/pnas.0403649101PMC PMC490002

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Abstract

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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Authors: Coskun, P. E., Beal, M. F., & Wallace, D. C.
Affiliations: University of California, Irvine (US)
Corresponding author: Wallace, Douglas C.
ORCID: Coskun, Pinar E.
Beal, M. Flint
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
DOI: 10.1073/pnas.0403649101
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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Alzheimer's brains harbor somatic mtDNA control-region mutations that suppress mitochondrial transcription and replication

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