%0 Journal Article
%A Stocker, Hannah
%A Gentiluomo, Manuel
%A Trares, Kira
%A Beyer, Léon
%A Stevenson-Hoare, Joshua
%A Rujescu, Dan
%A Holleczek, Bernd
%A Beyreuther, Konrad
%A Gerwert, Klaus
%A Schöttker, Ben
%A Campa, Daniele
%A Canzian, Federico
%A Brenner, Hermann
%T Mitochondrial DNA abundance in blood is associated with Alzheimer's disease- and dementia-risk.
%J Molecular psychiatry
%V 30
%@ 1359-4184
%C London
%I Macmillan
%M DKFZ-2024-01505
%P 131–139
%D 2025
%Z #EA:C070#LA:C070# /  30, pages 131–139 (2025)
%X The mitochondrial cascade hypothesis of Alzheimer's disease (AD) has been portrayed through molecular, cellular, and animal studies; however large epidemiological studies are lacking. This study aimed to explore the association of mitochondrial DNA copy number (mtDNAcn), a marker representative of mtDNA abundance per cell, with risk of incident all-cause dementia, AD, and vascular dementia diagnosis within 17 years and dementia-related blood biomarkers (P-tau181, GFAP, and NfL). Additionally, sex-stratified analyses were completed. In this German population-based cohort study (ESTHER), 9940 participants aged 50-75 years were enrolled by general practitioners and followed for 17 years. Participants were included in this study if information on dementia status and blood-based mtDNAcn measured via real-time polymerase chain reaction were available. In a nested case-control approach, a subsample of participants additionally had measurements of P-tau181, GFAP, and NfL in blood samples taken at baseline. Of 4913 participants eligible for analyses, 386 were diagnosed with incident all-cause dementia, including 130 AD and 143 vascular dementia cases, while 4527 participants remained without dementia diagnosis within 17 years. Participants with low mtDNAcn (lowest 10
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:39009700
%R 10.1038/s41380-024-02670-x
%U https://inrepo02.dkfz.de/record/291769