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Figure 3 | Orphanet Journal of Rare Diseases

Figure 3

From: Mutations in human lipoyltransferase gene LIPT1cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

Figure 3

Effects of lipoic acid administration on Δ lip3- deleted yeast strain and patient fibroblasts. A: Growth of Δlip3 on glucose and ethanol at different temperature and after lipoic acid administration. Δlip3 yeasts failed to growth on ethanol at 28°C and the effect was stronger at 36°C. Lipoic acid was added in growth medium of Δlip3 strains and strikingly improved Δlip3 growth (2 ng/ml). B: PDH, α-KGDH and citrate synthase (CS) activities measured on cultured fibroblasts in basal condition and after administration of lipoic acid. In patient fibroblasts, this led to absent, or only moderate increase of α-KGDH and PDH activity. C: Lactate levels in cultured fibroblast supernatants in basal condition and after administration of lipoic acid. P: patient, C: control. Lactate level decreased significantly and this effect contrasted with the increase observed in control fibroblasts. Data are represented as mean ± SEM. D: Labeled to natural isotopic ratios for 3-hydroxyisovaleric acid (an isovaleryl-CoA derivative) in the LIPT1-deficient patient compared to a MSUD and control patient. The panel shows that LIPT1 deficiency leads to a severe loss of metabolic flux involving BCKDH that is similar to BCDKH deficiency. The (+) and (-) signs stand for whether lipoate was added. Y-axis: ratio of stable isotope labeled vs natural 3-hydroxyvaleric acid. Error bars indicate standard deviations from triplicate experiments.

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