Is mitochondrial DNA depletion involved in Alzheimer's disease?
Abstract
Several studies have suggested that mitochondrial metabolism disturbances and mitochondrial DNA (mtDNA) abnormalities may contribute to the progression of the pathology of Alzheimer's disease (AD). In this study we have investigated whether the amount of mtDNA is modified in different brain regions (cerebellum, hippocampus and frontal cortex) of confirmed AD necropsies and in blood of living AD patients. We used a real-time PCR method to analyse the mtDNA relative abundance in brain regions from 12 AD and seven controls and from a group of blood samples (17 living AD patients and 11 controls). MtDNA from blood samples together with hippocampus and cerebellum brain areas did not show differences between controls and AD. However, AD patients showed a 28% decrease in the amount of mtDNA in the frontal cortex when compared to controls for this specific area. Since frontal cortex is a severely affected region in AD, our results support the hypothesis that mitochondrial defects may play a role in the pathogenesis of AD.
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AD subject brains and blood cells contain less PCR-amplifiable mtDNA.
“In aggregate, AD subject brains and blood cells contain less PCR-amplifiable mtDNA [47, 105, 109-111].”
From The Alzheimer’s disease mitochondrial cascade hypothesis: progress and perspectives (2014) · cites this paper as [111]
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References 24 · Cited by 57
- Authors
- Rodríguez-Santiago, B., Casademont, J., & Nunes, V.
- Affiliations
- Hospital Clínic de Barcelona (ES)
- Institut Català d'Oncologia (ES)
- Corresponding author
- Nunes, Virginia
- Venue
- European Journal of Human Genetics
- Published
- 2001-04
- Volume
- 9
- Issue
- 4
- Pages
- 279-285
- ISSN
- 1018-4813 (ISSN-L)
- 1476-5438
- OpenAlex
- W2319463508
- Cited by
- 57
- References
- 24
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 2 · 2023: 2 · 2022: 3 · 2021: 4 · 2020: 6 · 2019: 1 · 2018: 3 · 2017: 2 · 2013: 2 · 2012: 1
- FWCI
- 1.63
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- European Journal of Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Universitat de Barcelona
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Keywords
- Alzheimer's disease, mitochondrial DNA, mtDNA depletion, mitochondrial dysfunction, frontal cortex, hippocampus, cerebellum, brain regions, blood samples, pathogenesis
- MeSH terms
- Aged, Aged, 80 and over, Alzheimer Disease, Cerebellum, DNA, Mitochondrial, Frontal Lobe, Hippocampus, Humans, Middle Aged
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