Publications

Thinking outside the nucleus: Mitochondrial DNA copy number in health and disease

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Mitochondrion. 2020 Jul;53:214-223. doi: 10.1016/j.mito.2020.06.004. Epub 2020 Jun 13. ABSTRACT Mitochondrial DNA copy number (mtDNA-CN) is a biomarker of mitochondrial function and levels of mtDNA-CN have been reproducibly associated with overall mortality and a number of age-related diseases, including cardiovascular disease, chronic kidney disease, and cancer. Recent advancements in techniques for estimating mtDNA-CN, in particular …

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Postzygotic Somatic Mutations in the Human Brain Expand the Threshold-Liability Model of Schizophrenia

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Front Psychiatry. 2020 Oct 22;11:587162. doi: 10.3389/fpsyt.2020.587162. eCollection 2020. ABSTRACT The search for what causes schizophrenia has been onerous. This research has included extensive assessment of a variety of genetic and environmental factors using ever emerging high-resolution technologies and traditional understanding of the biology of the brain. These efforts have identified a large number of …

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Mitochondrial DNA copy number can influence mortality and cardiovascular disease via methylation of nuclear DNA CpGs

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Genome Med. 2020 Sep 28;12(1):84. doi: 10.1186/s13073-020-00778-7. ABSTRACT BACKGROUND: Mitochondrial DNA copy number (mtDNA-CN) has been associated with a variety of aging-related diseases, including all-cause mortality. However, the mechanism by which mtDNA-CN influences disease is not currently understood. One such mechanism may be through regulation of nuclear gene expression via the modification of nuclear DNA …

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Blood-derived mitochondrial DNA copy number is associated with gene expression across multiple tissues and is predictive for incident neurodegenerative disease

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Genome Res. 2021 Mar;31(3):349-358. doi: 10.1101/gr.269381.120. Epub 2021 Jan 13. 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 …

Blood-derived mitochondrial DNA copy number is associated with gene expression across multiple tissues and is predictive for incident neurodegenerative disease Read More »