Fig. 2

Deletion frequencies and ablation levels of mtDNA vary with age, disease, and mapped location. a–e Gwt muscle samples are represented by triangles, and Gvar samples are represented by circles. Among wild type samples, one young and one aged sample are highlighted (M03, biopsied at 23 years, in black and M17, biopsied at 83 years, in red, respectively). a Among Gwt muscle samples, deletion loads are independent of age (per Mbp mapped to mtDNA reference). b The fraction of mtDNA remaining for two Gwt and two Gvar samples. A linearized mtDNA map (see Fig. 1a) is shown above the graph with key features indicated: oriL (green); 7S-DNA 3′-end (red); minor arc (magenta); and major arc (teal). c Ablation (area above the curve in b) depends upon age, as seen in Gwt samples. d Ablation at biopsy is higher and more varied among Gvar samples. Ablation increases with age between well-spaced Gvar samples: A467T;A467T (dark blue); and heterozygous Y955C (purple). e The minimum estimated ablation at onset in Gvar samples exceeds the maximum observed ablation at biopsy in Gwt samples, implying a threshold for clinical symptoms (dashed line). f A deletion length spectrum example (1 bp bins; Gvar sample M24). Very large deletions (> 15 kbp) may indicate insertions, primarily within the control region. For all samples, see LostArc Reports in Supplemental Information (also see Additional file 1: Figs. S4 and S5). Major and minor arc sizes are shown below the histogram (teal and magenta). g Deletion length spectra (400 bp bins) for Gwt and variant (A467T;A467T) samples of similar ages