Mitochondrial dysfunction has long been known to play an important role in the underlying etiology of several aging-related diseases, including cardiovascular disease (CVD), neurodegenerative disorders and cancer. As an easily measurable and accessible proxy for mitochondrial function, mitochondrial DNA copy number (mtDNA-CN) is increasingly used to assess the role of mitochondria in disease. Several population-based studies have shown higher levels of mtDNA-CN to be associated with decreased incidence for CVD and its component parts: coronary artery disease (CAD) and stroke,  neurodegenerative disorders such as Parkinson’s and Alzheimer’s, as well as several types of cancer including breast, kidney, liver and colorectal[6–8]. Furthermore, mtDNA-CN measured from peripheral blood has consistently been shown to be higher in women, decline with age, and correlate negatively with white blood cell (WBC) count.

Quantitative real-time PCR (qPCR) has been the most widely used method for measuring mtDNA-CN, partly due to its low cost and quick turnaround time. However, recent work has demonstrated the feasibility of accurately measuring mtDNA-CN from preexisting microarray, whole exome sequencing (WES) and whole genome sequencing (WGS) data. With these advances, it is important for the field to evaluate these methods in the context of the current gold standard.

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