Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies

Figure 2

SDS Western blot analysis of muscle and immunofluorescence staining of the OXPHOS complexes of fibroblasts. (a) SDS Western blot analysis of UQCC2, Core 2, NDUFS4, and VDAC1 of muscle 600 g supernatant and isolated fibroblast mitochondria. Two different amounts of mitochondrial proteins were loaded of controls and patient muscle/fibroblasts. (b) SDS Western blot analysis of the OXPHOS complexes of muscle 600 g supernatant of the OXPHOS complexes. (c) Immunofluorescence staining of complexes III and I in fibroblasts. (A, B) Staining of complex III and porin. (C, D) Staining of complex I and porin. (A, C) Control. (B, D) Patient. Magnification 20x.

(a)

(b)

(c)