{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Yang SY"],"funding":["National Institute of Neurological Disorders and Stroke","UK Biobank Resource","Common Fund of the Office of the Director of the National Institutes of Health","Medical Research Council","National Heart, Lung, and Blood Institute","NHLBI NIH HHS","National Cancer Institute","National Institute of Mental Health","National Institutes of Health","National Human Genome Research Institute","National Institute on Drug Abuse"],"pagination":["349-358"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7919448"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["31(3)"],"pubmed_abstract":["Mitochondrial DNA copy number (mtDNA-CN) is a proxy for mitochondrial function and is associated with aging-related diseases. However, it is unclear how mtDNA-CN measured in blood can reflect diseases that primarily manifest in other tissues. Using the Genotype-Tissue Expression Project, we interrogated relationships between mtDNA-CN measured in whole blood and gene expression from whole blood and 47 additional tissues in 419 individuals. mtDNA-CN was significantly associated with expression of 700 genes in whole blood, including nuclear genes required for mtDNA replication. Significant enrichment was observed for splicing and ubiquitin-mediated proteolysis pathways, as well as target genes for the mitochondrial transcription factor NRF1. In nonblood tissues, there were more significantly "],"journal":["Genome research"],"pubmed_title":["Blood-derived mitochondrial DNA copy number is associated with gene expression across multiple tissues and is predictive for incident neurodegenerative disease."],"pmcid":["PMC7919448"],"funding_grant_id":["MC_PC_17228","17731","R01 HL131573","R01HL13573","MC_QA137853","R01 HL144569","R01HL144569"],"pubmed_authors":["Longchamps RJ","Guallar E","Arking DE","Pillalamarri VK","O'Rourke B","Castellani CA","Yang SY"],"additional_accession":[]},"is_claimable":false,"name":"Blood-derived mitochondrial DNA copy number is associated with gene expression across multiple tissues and is predictive for incident neurodegenerative disease.","description":"Mitochondrial DNA copy number (mtDNA-CN) is a proxy for mitochondrial function and is associated with aging-related diseases. However, it is unclear how mtDNA-CN measured in blood can reflect diseases that primarily manifest in other tissues. Using the Genotype-Tissue Expression Project, we interrogated relationships between mtDNA-CN measured in whole blood and gene expression from whole blood and 47 additional tissues in 419 individuals. mtDNA-CN was significantly associated with expression of 700 genes in whole blood, including nuclear genes required for mtDNA replication. Significant enrichment was observed for splicing and ubiquitin-mediated proteolysis pathways, as well as target genes for the mitochondrial transcription factor NRF1. In nonblood tissues, there were more significantly ","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Mar","modification":"2026-05-02T11:36:55.744Z","creation":"2022-02-11T10:06:14.578Z"},"accession":"S-EPMC7919448","cross_references":{"pubmed":["33441415"],"doi":["10.1101/gr.269381.120"]}}