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.