Figure 4.
Exploring relationship between mtDNA copy number and mitochondrial mass with respiratory chain deficiency in patients 3, 7–10 and 16. For all plots box and whiskers show mean, 25th and 75th percentiles, minimum and maximum. (A) D-Loop (total) mtDNA copy number fibres were grouped as CI+ CIV+, CI- CIV+ and CI- CIV-. A significantly higher level of copy number is detected in both CI- CIV+ and CI- CIV- compared to CI+ CIV+ (P < 0.0001, Mann–Whitney). No significant difference is noted between CI- CIV+ and CI- CIV- (Mann–Whitney). (B) ND4 (wild-type) mtDNA copy number for CI+ CIV+, CI- CIV+ and CI CIV- fibres. No significant difference in copy mtDNA copy number between CI+ CIV+ and group CI- CIV+ (Mann–Whitney). In comparison, there is a significantly lower wild-type copy number in groups CI- CIV- compared to groups CI+ CIV+ and CI- CIV+ (P < 0.0001, Mann–Whitney). (C) Porin level for CI + CIV+, CI- CIV+ and CI- CIV- type I muscle fibres. (D) Porin level for CI+ CIV+, CI- CIV+, CI- CIV- type II fibres.