Fig. 6.

Validation of MitoSV-seq in healthy donors and AML patients. (a) Effect of mild oxidative stress on mtDNA genetic variations in blood samples. MtDNA variations were identified in bulk cells using MitoSV-seq. (b) Heteroplasmy rates of detected SVs in PBMCs without and with treatment. (c) Single myeloid cell isolation. AML, acute myeloid leukaemia. (d) Comparison of MitoSV-seq efficiency on bulk and single cells. B: bulk; SC: single cell. (e) Distribution of variations in bulk and single myeloid cells with MitoSV-seq. Venn diagram represents total number of detected variations in each condition and their overlap. Circos plots of human mtDNA genome displaying heavy and light origins of replication (OH and LO, respectively), major arc, and D-loop (outer blue circle). mtDNA genes are displayed in the middle circle (grey lines). Also shown are SVs as arches with deletions (blue), tandem duplications (red), inversions (green), and insertions (orange). Thickness of the arches corresponds to SV heteroplasmy. SNVs are marked with short red lines (_) according to their positions in mouse mtDNA. Intensity of red lines corresponds to SNV heteroplasmy. (f) Performance of conventional and the newly developed technique in myeloid cells healthy donors and AML patients. C, conventional technique; N, new (MitoSV-seq).