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Thinking outside the nucleus: mitochondrial DNA copy number in health and disease
ScienceDirect (2020)
  • Christina Castellani, Western University
  • Ryan J Longchamps
  • Jing Sun
  • Eliseo Guallar
  • Dan E Arking
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 the use of DNA microarrays and next-generation sequencing data, have led to the comprehensive assessment of mtDNA-CN across these and other diseases and traits. The importance of mtDNA-CN measures to disease and these advancing technologies suggest the potential for mtDNA-CN to be a useful biomarker in the clinic. While the exact mechanism(s) underlying the association of mtDNA-CN with disease remain to be elucidated, we review the existing literature which supports roles for inflammatory dynamics, immune function and alterations to cell signaling as consequences of variation in mtDNA-CN. We propose that future studies should focus on characterizing longitudinal, cell-type and cross-tissue profiles of mtDNA-CN as well as improving methods for measuring mtDNA-CN which will expand the potential for its use as a clinical biomarker.

  • Nucleus,
  • Mitochondria,
  • DNA,
  • Disease,
  • Health,
  • Mortality,
  • Cancer,
  • Cardiovascular disease
Publication Date
Spring March 14, 2020
Citation Information
Christina Castellani, Ryan J Longchamps, Jing Sun, Eliseo Guallar, et al.. "Thinking outside the nucleus: mitochondrial DNA copy number in health and disease" ScienceDirect Vol. 53 (2020) p. 214 - 223
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