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

Autor: Christina A. Castellani, Ryan J. Longchamps, Jason A. Sumpter, Charles E. Newcomb, John A. Lane, Megan L. Grove, Jan Bressler, Jennifer A. Brody, James S. Floyd, Traci M. Bartz, Kent D. Taylor, Penglong Wang, Adrienne Tin, Josef Coresh, James S. Pankow, Myriam Fornage, Eliseo Guallar, Brian O’Rourke, Nathan Pankratz, Chunyu Liu, Daniel Levy, Nona Sotoodehnia, Eric Boerwinkle, Dan E. Arking

Publikováno v: Genome Medicine, Vol 12, Iss 1, Pp 1-17 (2020)

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 suc

Externí odkaz: https://doaj.org/article/0d14c8d7fa654cee80423f94c579a922

Association of mitochondrial DNA copy number with cardiometabolic diseases

Autor: Xue Liu, Ryan J. Longchamps, Kerri L. Wiggins, Laura M. Raffield, Lawrence F. Bielak, Wei Zhao, Achilleas Pitsillides, Thomas W. Blackwell, Jie Yao, Xiuqing Guo, Nuzulul Kurniansyah, Bharat Thyagarajan, Nathan Pankratz, Stephen S. Rich, Kent D. Taylor, Patricia A. Peyser, Susan R. Heckbert, Sudha Seshadri, L. Adrienne Cupples, Eric Boerwinkle, Megan L. Grove, Nicholas B. Larson, Jennifer A. Smith, Ramachandran S. Vasan, Tamar Sofer, Annette L. Fitzpatrick, Myriam Fornage, Jun Ding, Adolfo Correa, Goncalo Abecasis, Bruce M. Psaty, James G. Wilson, Daniel Levy, Jerome I. Rotter, Joshua C. Bis, Claudia L. Satizabal, Dan E. Arking, Chunyu Liu

Publikováno v: Cell Genomics, Vol 1, Iss 1, Pp 100006- (2021)

Summary: Mitochondrial DNA (mtDNA) is present in multiple copies in human cells. We evaluated cross-sectional associations of whole-blood mtDNA copy number (CN) with several cardiometabolic disease traits in 408,361 participants of multiple ancestrie

Externí odkaz: https://doaj.org/article/d67cf2b72fdc44dcad48f49e84ac8b65

Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation

Autor: Ryan J. Longchamps, Rozenn N. Lemaitre, Traci M. Bartz, Henning Tiemeier, Anna L. Guyatt, Nir Barzilai, A.G. Uitterlinden, A. C. Y. Mak, C M van Duijn, Eric Boerwinkle, Mary F. Feitosa, Stephen S. Rich, Rui Xia, Gil Atzmon, Santiago Rodriguez, Bruce M. Psaty, Dan E. Arking, Chloé Sarnowski, Jerome I. Rotter, Mark O. Goodarzi, Megan L. Grove, Jennifer A. Brody, Joanne M. Murabito, J.B. van Meurs, Mary K. Wojczynski, K. Ye, Aviv Bergman, Nona Sotoodehnia, Tom R. Gaunt, Le Yu, Nathan Pankratz, Myriam Fornage, Najaf Amin, Tim Kacprowski, Kathryn L. Lunetta, Ching-Ti Liu, Jingyun Yang, Kent D. Taylor, Fernando Rivadeneira, David A. Bennett, Kimberley Burrows, S. Y. Yang, Michael A. Province, Wei Shi, C. M. Sitlani, Laura M. Raffield, P. L. De Jager, Leslie A. Lange, Aldi T. Kraja, Linda Broer, John Lane, Christina A. Castellani

Publikováno v: Longchamps, R J, Yang, S Y, Castellani, C A, Shi, W, Lane, J, Grove, M L, Bartz, T M, Sarnowski, C, Liu, C, Burrows, K, Guyatt, A L, Gaunt, T R, Kacprowski, T, Yang, J, De Jager, P L, Yu, L, Bergman, A, Xia, R, Fornage, M, Feitosa, M F, Wojczynski, M K, Kraja, A T, Province, M A, Amin, N, Rivadeneira, F, Tiemeier, H, Uitterlinden, A G, Broer, L, Van Meurs, J B J, Van Duijn, C M, Raffield, L M, Lange, L, Rich, S S, Lemaitre, R N, Goodarzi, M O, Sitlani, C M, Mak, A C Y, Bennett, D A, Rodriguez, S, Murabito, J M, Lunetta, K L, Sotoodehnia, N, Atzmon, G, Ye, K, Barzilai, N, Brody, J A, Psaty, B M, Taylor, K D, Rotter, J I, Boerwinkle, E, Pankratz, N & Arking, D E 2022, ' Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation ', Human Genetics, vol. 141, no. 1, pp. 127-146 . https://doi.org/10.1007/s00439-021-02394-w
Paediatrics Publications
Human genetics, vol 141, iss 1
Human Genetics, 141(1), 127-146. Springer-Verlag
Human Genetics

Mitochondrial DNA copy number (mtDNA-CN) measured from blood specimens is a minimally invasive marker of mitochondrial function that exhibits both inter-individual and intercellular variation. To identify genes involved in regulating mitochondrial fu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::271655c774846c1bff335569b9acbe6b
https://hdl.handle.net/1983/88fc5165-58e5-4d81-a3d0-6c2dc336580a

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

Autor: Vamsee Pillalamarri, Dan E. Arking, Brian O'Rourke, Ryan J. Longchamps, Christina A. Castellani, Eliseo Guallar, Stephanie Y. Yang

Publikováno v: Paediatrics Publications
Genome Res

BackgroundMitochondrial DNA copy number (mtDNA-CN) can be used as a proxy for mitochondrial function and is associated with a number of aging-related diseases. However, it is unclear how mtDNA-CN measured in blood can reflect risk for diseases that p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4914b9467dab70b35a22b17781cdddcd
https://ir.lib.uwo.ca/paedpub/947

Mitochondrial DNA copy number and incident atrial fibrillation

Autor: Alvaro Alonso, Eliseo Guallar, Nona Sotoodehnia, Yun Soo Hong, Wendy Post, Ryan J. Longchamps, Dan E. Arking, Traci M. Bartz, John A. Lane, Di Zhao, Brian O'Rourke, Nathan Pankratz, Henry J. Lin, Jerome I. Rotter, Christina A. Castellani, Susan R. Heckbert, Stephanie Y. Yang

Publikováno v: BMC Medicine, Vol 18, Iss 1, Pp 1-11 (2020)
BMC Medicine
BMC medicine, vol 18, iss 1
Paediatrics Publications

Background Mechanistic studies suggest that mitochondria DNA (mtDNA) dysfunction may be associated with increased risk of atrial fibrillation (AF). The association between mtDNA copy number (mtDNA-CN) and incident AF in the general population, howeve

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4a7d8dd9826090678baf5be6a26e52e
https://doi.org/10.1186/s12916-020-01715-6