Rescue of COX Assembly and COX I Translation Defect in Subject Fibroblasts
(A) BN-PAGE analysis of the assembly of individual OXPHOS complexes in control and subject fibroblasts expressing C12orf62 from a retroviral vector (upper panel). With complex II subunit 70 kDa as a loading control, SDS-PAGE analysis of C12orf62 indicates its level of expression (lower panel).
(B) Pulse labeling with [35S] methionine and [35S] cysteine of mitochondrial polypeptides and a 10 min chase (PULSE) in control and subject fibroblasts expressing C12orf62 from a retroviral vector. The seven subunits of complex I (ND), one subunit of complex III (cyt b), three subunits of complex IV (COX), and two subunits of complex V (ATP) are indicated at the left of the figure.
(C) SDS-PAGE analysis of C12orf62 steady-state levels in two controls, TACO1 patient and subject fibroblasts. Complex II-70kDa subunit and complexI-39kDa subunit were used as loading controls.