Figure 2.

The effect of pathogenic MT-ATP6 variants at the RNA level and on mitochondrial protein synthesis. (A) Top, a schematic illustrating the RNA processing of the mitochondrial polycistronic transcript to liberate MT-ATP6 mRNA. Arrows indicate the position of the AUG start codon and asterisk the respective stop codon. MT-ATP8 and MT-ATP6 have an overlapping start and stop codons. MT-CO3 does not encode a stop codon. (B) Top, diagram illustrating the binding sites of oligonucleotide probes used in northern blotting analysis. Northern blotting of total whole cell RNA isolated from cultured human fibroblasts with the indicated MT-ATP6 genotypes. Each depiction represents a representative image following hybridization with the indicated oligonucleotide probes. (C) A representative 30-min pulse of metabolic labelling with ³⁵S-methionine/cysteine of the cultured human fibroblasts with the indicated MT-ATP6 genotypes. All data are representative of independent experiments.