Fig. 5: Assessment of association between functional complex I deficiency and mitochondrial DNA changes in PD muscle. | Communications Medicine

Fig. 5: Assessment of association between functional complex I deficiency and mitochondrial DNA changes in PD muscle.

From: Mitochondrial complex I deficiency occurs in skeletal muscle of a subgroup of individuals with Parkinson’s disease

Fig. 5

Bulk muscle tissue mitochondrial DNA (mtDNA) analyses from eight PD individuals with complex I (CI) activity similar to controls (red boxplots and bars), nine PD individuals with low CI activity (yellow boxplots and bars), and 10 controls (blue boxplot and bars). The groups were matched for age. Boxes: median and interquartile range (IQR); whiskers: 1.5x IQR from the lower and upper quartiles. Each dot represents one individual. a mtDNA copy number in bulk muscle tissue, normalized to the nuclear gene APP. b Major arc deletion fractions in bulk muscle tissue. c, d Heteroplasmic load in bulk muscle tissue, defined as the sum of the heteroplasmy values across the mtDNA region, assessed separately in the regions 600–8600 (amplicon 1) and 9100–16200 (amplicon 2). Heteroplasmy levels were only considered if above 1% and restricted to single-nucleotide variants. e, f The distribution of heteroplasmy within the mtDNA in the three groups is shown as the sum of all heteroplasmic levels in 100 bp windows (y-axis) across the mtDNA amplicons (mtDNA coordinates, x-axis).

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