Figure 3.

Dystrophin re-expression in DMD hiPSC-CMs after PTC124 treatment

(A) Dystrophin gene expression profiles in DMD hiPSC-CMs, characterized by a genetic point mutation in exon 35 (c.4,996C>T; (p.Arg1,666X)) of the Dystrophin gene, upon NAC, PTC124, and idebenone addition. Each data point is represented as ΔCt and normalized for the housekeeping genes (GAPDH and RPL13a). Data are representative of five or more independent experiments (n ≥ 5), and values are expressed as mean ± SEM. ^∗p < 0.05, ^∗∗p < 0.01, ^∗∗∗p < 0.001, and ^∗∗∗∗p < 0.0001 versus subjects within the treatment condition.

(B) Immunostaining at day 24 of differentiation demonstrating Dystrophin protein re-expression (green) upon PTC124 treatment in cTnT-positive DMD and control hiPSC-CMs (cTnT, red and Hoechst, blue). Scale bar: 100 μm.

(C) Western blot analysis quantifying Dystrophin proteins in ACTN2-positive DMD and control hiPSC-CMs, normalized to the loading protein ACTB.