Complexome profiling of mitochondrial protein complexes to study assembly of complex III and supercomplex stability in patients with defects in UQCRH gene

UQCRH, also called the hinge protein, is a small subunit of Ubiquinol—cytochrome-c reductase (complex III). Here we used a complexome analysis of primary and immortalized fibroblasts from patients with a homozygous 2 exon deletion in the UQCRH gene and analyzed complex III assembly and altered supercomplex composition.