Fig. 3: Biochemical effects of COX18 downregulation and overexpression. | European Journal of Human Genetics

Fig. 3: Biochemical effects of COX18 downregulation and overexpression.

From: A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy

Fig. 3

A Quantitative gene expression levels of COX18 in HEK293 treated with scrambled or RNAi sequences directed against COX18. B Immunoblot analysis of selected respiratory chain subunits in COX18-silenced HEK293 cells, showing the reduction of COX subunits COX-II and COX-IV (densitometry showed on the right). C Activities of respiratory chain Complex II and IV in control or COX18-silenced HEK293 cells. D BN-PAGE analysis and (E) in-gel activity assay of respiratory chain complexes in control or COX18-silenced HEK293 cells, documenting a severe Complex IV reduction. F Immunoblot analysis showing the rescue of COX-II protein levels and Complex IV activity (G) in patient’s myoblasts after COX18 overexpression (visualized by fusion tag FLAG-DDK band, PatientCOX18wt) compared to mock-transfected patient’s myoblasts and control cells. H Profound decrease of COX histochemical reaction, visualized in patient’s myoblasts, compared to control cells, was partially rescued after COX18 overexpression (PatientCOX18wt). Scale bar 20 µm.

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