Figure 3
Mitochondrial respiratory chain expression profile linking complex I (NDUFB8), complex IV and porin levels in patients with isolated Complex I deficiency caused by defects in mtDNA-encoded Complex I subunits. Graphs show complex I and complex IV expression profile from patients with (A) m.3356T>C MTND1 variant, P16, n = 696 fibres analysed (B) m.10158T>C MTND3 variant, P17, n = 5842 (C) m.10197G>A MTND3 variant, P18, n = 7302 (D) m.13514A>G MTND5 variant, P19, n = 2427 (E) m.12425delA MTND5 variant, P20, n = 3795 (F) m.13094T>C MTND5 variant, P21, n = 1311 (G) m.13513G>A MTND5 variant, P22, n = 3341 (H) m.13513G>A MTND5 variant, P23, n = 2730 (I) m.13513G>A MTND5 variant, P24, n = 675 (J) m.13513G>A MTND5 variant, P25, n = 785. Each dot represents a single muscle fibre, colour co-ordinated according to its mitochondrial mass: very low – blue, low - light blue, normal – beige, high – orange, very high - red. Black dashed lines represent the SD limits for the classification of the fibres. Lines adjacent to X and Y axis represent the levels of NDUFB8 and COX-1: beige: normal (<−3), light beige: intermediate (+) (−3 to −4.5), light blue: intermediate (−) (−4.5 to −6) and blue: deficient (>−6). Bold dashed lines indicate the mean expression level of normal fibres.
