Figure 5

Quantification of the different OPA1 transcripts derived from the mutant and the WT allele. (A) A clarifying scheme about the strategy for the relative quantification with boxes indicating the different amplicons of exon/exon junctions and their relative ratios if one assumes that both transcripts are equally abundant. (B) One would expect a ratio of exon 7-8 to exon 6-7 to exon 9-7 of 3 to 2 to 1 when transcripts of both alleles are equally abundant (expected); patients clearly presented with reduced levels of exon 7-8 and 9-7 amplicons indicating an imbalance in favor of the transcripts derived from the WT allele (patient A & patient B); controls show no difference in the quantification of the exon 7-8 and 6-7 amplicons, proving that the method works very accurate. (C) The readout of a typical quantification of the exon 6-7 junction in relation to GAPDH shows a significant up regulation of OPA1 in patients' fibroblasts.