Cited by 219Alzheimer's disease research and treatmentsDementia and Cognitive Impairment ResearchMitochondrial Function and Pathology

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Low cerebrospinal fluid concentration of mitochondrial DNA in preclinical Alzheimer disease

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Podlesniy, Petar, Figueiro‐Silva, Joana, Llado, Albert, Antonell, Anna, Sanchez‐Valle, Raquel, Alcolea, Daniel, Lleo, Alberto, Molinuevo, Jose Luis, Serra, Nuria, Trullas, Ramon·2013·Annals of Neurology

DOI 10.1002/ana.23955

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Abstract

OBJECTIVE: To identify a novel biochemical marker that precedes clinical symptoms in Alzheimer disease (AD). METHODS: Using quantitative polymerase chain reaction techniques, we measured circulating cell-free mitochondrial DNA (mtDNA) in cerebrospinal fluid (CSF) from study participants, selected from a cohort of 282 subjects, who were classified according to their concentrations of amyloid β1-42, total tau, and phosphorylated tau and by the presence or absence of dementia, into asymptomatic subjects at risk of AD, symptomatic patients diagnosed with sporadic AD, presymptomatic subjects carrying pathogenic PSEN1 mutations, and patients diagnosed with frontotemporal lobar degeneration (FTLD). We performed equivalent studies in a separate validation cohort of sporadic AD and FTLD patients. In addition, we measured mtDNA copy number in cultured cortical neurons from mutant amyloid precursor protein/presenilin1 (APP/PS1) transgenic mice. RESULTS: Asymptomatic patients at risk of AD and symptomatic AD patients, but not FTLD patients, exhibit a significant decrease in circulating cell-free mtDNA in the CSF. These observations were confirmed in the validation cohort. In addition, presymptomatic subjects carrying pathogenic PSEN1 gene mutations show low mtDNA content in CSF before the appearance of AD-related biomarkers in CSF. Moreover, mtDNA content in CSF discriminates with high sensitivity and specificity AD patients from either controls or patients with FTLD. Furthermore, cultured cortical neurons from APP/PS1 transgenic mice have fewer mtDNA copies before the appearance of altered synaptic markers. INTERPRETATION: Low content of mtDNA in CSF may be a novel biomarker for the early detection of preclinical AD. These findings support the hypothesis that mtDNA depletion is a characteristic pathophysiological factor of neurodegeneration in AD.

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Authors: Podlesniy, P., Figueiro‐Silva, J., Llado, A., Antonell, A., Sanchez‐Valle, R., Alcolea, D., Lleo, A., Molinuevo, J. L., Serra, N., & Trullas, R.
Affiliations: Consejo Superior de Investigaciones Científicas (ES)
Neurology Service Hospital Clinic de Barcelona Barcelona Spain
Hospital Clínic de Barcelona (ES)
Hospital de Sant Pau (ES)
Centro de Investigacion Biomedica en Red de Enfermedades Neurodegenerativas, CIBERNED Madrid Spain
Neurobiology Unit Instituto de Investigaciones Biomedicas de Barcelona, Consejo Superior de Investigaciones Cientificas, CSIC Barcelona Spain
ORCID: Podlesniy, Petar
Figueiro‐Silva, Joana
Antonell, Anna
Alcolea, Daniel
Venue: Annals of Neurology
Publisher: Wiley
Published: 2013-09-04
Volume: 74
Issue: 5
Pages: 655-668
ISSN: 0364-5134 (ISSN-L)
1531-8249
DOI: 10.1002/ana.23955
OpenAlex: W1778065122
Cited by: 219
References: 24
Citations by year: 2026: 13 · 2025: 17 · 2024: 13 · 2023: 18 · 2022: 21 · 2021: 21 · 2020: 17 · 2019: 12 · 2018: 20 · 2017: 11 · 2016: 21 · 2015: 16 · 2014: 15 · 2013: 4
FWCI: 12.96
Type: journal article
Language: en
Open access: green
hdl.handle.net
Licence: other-oa
onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations: Annals of Neurology (publishedVersion)
PubMed (publishedVersion)
DIGITAL.CSIC (Spanish National Research Council (CSIC)) (submittedVersion, other-oa)
Funders: Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas
Topics: 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
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
Keywords: Alzheimer's disease, preclinical Alzheimer's disease, mitochondrial DNA, cerebrospinal fluid biomarkers, PSEN1 mutations, frontotemporal lobar degeneration, APP/PS1 mice, cortical neurons, mtDNA depletion, neurodegeneration, early detection
MeSH terms: Alzheimer Disease, Animals, DNA, Mitochondrial, Female, Humans, Male, Mice, Transgenic, Peptide Fragments, Phosphorylation, Biomarkers, Amyloid beta-Protein Precursor, tau Proteins, Mice, Presenilin-1, Cognitive Dysfunction, Prodromal Symptoms

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Low cerebrospinal fluid concentration of mitochondrial DNA in preclinical Alzheimer disease

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