Cited by 57Mitochondrial Function and PathologyAlzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Is mitochondrial DNA depletion involved in Alzheimer's disease?

Rodríguez-Santiago, Benjamín, Casademont, Jordi, Nunes, Virginia·2001·European Journal of Human Genetics

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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Crossref · 10.1038/sj.ejhg.5200629

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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
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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