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Comparative Study
. 2021 Jan:56:35-39.
doi: 10.1016/j.mito.2020.11.006. Epub 2020 Nov 18.

Measurement of mitochondrial DNA copy number in dried blood spots: A pilot study

Chelsea Anderson  1 , Rebecca C Fry  2 , Hadley Hartwell  2 , Cynthia Kleeberger  3 , Dale P Sandler  4 , Hazel B Nichols  5
Affiliations
Comparative Study

Measurement of mitochondrial DNA copy number in dried blood spots: A pilot study

Chelsea Anderson et al. Mitochondrion. 2021 Jan.

Abstract

Background: We evaluated the feasibility of mitochondrial DNA (mtDNA) copy number measurement in dried blood spots (DBS), its comparability with measurement in whole blood samples, and stability of mtDNA copy number from DBS over time.

Methods: Women in this pilot study were participants in the Sister Study, a large prospective cohort. Sister Study participants provided a whole blood sample and DBS at enrollment. A second DBS sample was collected 5-10 years later from a subcohort of women with and without an incident breast cancer diagnosis between collections. Among 54 women (27 with breast cancer, 27 without) we measured mtDNA copy number from whole blood at enrollment and from DBS at both time points.

Results: The average age at enrollment was 58.7 years (range:50-69). Values of mtDNA copy number measured in whole blood samples and DBS from enrollment were moderately correlated (Spearman R = 0.45; p = 0.005). Stability of mtDNA copy number in DBS from the two time points was moderate overall (ICC = 0.50) and similar between women with (ICC = 0.50) and without (ICC = 0.51) a breast cancer diagnosis between the two collections.

Conclusions: Our results suggest that measurement of mtDNA copy number in DBS is feasible and may be a valid alternative to measurement in whole blood samples.

Keywords: Dried blood spots; Humans; Mitochondrial DNA copy number.

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Conflict of interest statement

Declarations of interest: None

Figures

Figure 1.
Figure 1.
Comparison of mtDNA copy number from the whole blood sample from enrollment versus the dried blood spot sample from enrollment. Spearman correlation: R=0.45, p=0.0005. The coordinates of the two points below the line of Y=X are (794, 47) and (1367, 383) and are from women without a breast cancer diagnosis. Samples which required an additional clean-up step are indicated with triangles.
Figure 2.
Figure 2.
Comparison of mtDNA copy number from the dried blood spot sample from enrollment versus the dried blood spot sample at the second visit. Pearson correlation: R=0.66, p<0.0001; Intra-class correlation coefficient=50%. Samples which required an additional clean-up step are indicated with triangles.
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