Figure 5. Mitochondrial functional validation in patient-derived lymphocytes.
A-B. BN-PAGE for mitochondrial complexes (A) and supercomplex (B). Asterisk indicates the incomplete assembly intermediate complex. TOM70 was used as internal loading controls.
C-E. Oxygen respiration rate (C), relative cellular ATP (D) and mitochondrial ROS content (E) of healthy control and patient-derived lymphocytes. *p <0.05, **p <0.01, ***p <0.001.
Figure 6. Overview of the TMEM126B variants and phenotypes.
A. The recurrent clinical phenotypes of all published literatures aboutTMEM126B mutation. Colored circles (right) indicate various compound phenotypic combination, and the histogram represents corresponding patient number (Vertical direction). The number of patients corresponding to the phenotype is indicated on the left of the graph.
B. Summary the location about TMEM126B mutations of all published literatures. Wathet rectangles indicates introns, primrose yellow presents exons, mazarine indicates the coding sequence.