Fig. 2
From: ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability
Analysis of oxidative phosphorylation system complexes in Patient 1
(A) Activities of respiratory chain complexes and citrate synthase in cultured fibroblasts in Patient 1; (B) BN-PAGE/WB/Immunodetection showed decreased levels of complex IV, complex I and complex V holoenezyme in muscle mitochondria (CI-NDUFA9, CII-SDHA, CIII-UQCRC2, CIV-COX1, CV ATP5A). (C) Mitochondrial proteosynthesis rate measured using metabolic labelling with 35 S-Met + 35 S-Cys was only slightly decreased to 84% of the control; (D) In fibroblasts, significantly decreased levels of COX2 and ATP5A, complex IV and complex V subunits, respectively, were noted. Results of three independent analyses were used and one representative blot is presented. (** p < 0.01, *** p < 0.001) C – Control, M – Marker, P - Patient