Figures & data
Figure 1. The pedigree chart of the family and relationship between dose of CoQ10 and urinary protein. (A) Pedigree chart of the family. The filled circle denotes the proband, and the filled square donates her died brother. (B) The patient’s urinary protein decreased with the increasing dose of CoQ10.
Figure 2. Renal pathological changes of the proband’s elder brother harbored COQ2 mutations. (A) The glomeruli showed segmental sclerosis and adhesion to the Bowman’s capsule wall (Light microscope, hematoxylin eosin staining, Scale bar: 42 μm). (B) Mitochondria accumulated in the podocyte with normal contour (Electron microscope, Scale bar: 1 μm).
Figure 3. The identified COQ2 mutations of the pedigree. A and B: proband; C and D: elder brother of the proband; E and F: the father; G and H: the mother. I and J: Multiple alignment of amino acid sequences across species using Clustal X, which showed high conservation of the amino acids at locus 353 and locus 325 of COQ2.
