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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation

Fig. 1

Effect of ketogenic treatment on mtDNA mutation percentage and copy number. a Percentage of m.13094 T > C transition. Gel showing PCR-RFLP results for cybrids with the m.13094 T > C mutation. M, molecular weight marker; Am, amplicon; C-, negative control; G, 5.5 mM glucose grown mutant cybrid; A, 5 mM acetoacetate-treated mutant cybrid; B, 5. mM β-hydroxybutyrate-treated mutant cybrid; AB, 5 mM acetoacetate + 5 mM β-hydroxybutyrate-treated mutant cybrid. Heteroplasmy produces two new bands (218 + 188 base pairs). b Graph showing percentage of m.13094 T > C mutation in cybrids. These percentages were obtained from the Fig. 1a gel. Statistically significant differences are indicated by * (vs G) or # (vs A or B). c Percentage of m.13094 T > C transition. Gel showing PCR-RFLP results for m.13094 T > C mutation, in fibroblast and cybrids, after additional ketogenic treatment. G6 and G12, cybrids with 20% mutation load grown in G medium for additional 6 and 12 days, respectively. AB6 and AB12, cybrids with 20% mutation load grown in AB medium for additional 6 and 12 days, respectively. d ATP levels in cybrids with different m.13094 T > C mutation load. Dashed line represents ATP levels in the Owth control cybrid. Statistically significant differences are indicated by * (vs Owth), & (vs O13094, 0%), or # (vs O13094, 20%). e mtDNA levels in wild-type and LHON mutant cybrids. mtDNA amount in each untreated cybrid is considered 100% (dashed line). Statistically significant differences are indicated by * (vs untreated cybrid).

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