Figure 6.

Downregulation of mTORC1 activates autophagic pathway in BH₄-responsive PKU patients. (A) Levels of phosphorylated S6K and LC3-II in lymphocytes from BH₄-responsive PKU patients with BH₄ deficiency left untreated (Patient #1 and #3) or treated with 400 mg/day BH₄ (Patient #2 and #4) were examined by protein gel blotting. Patient #1, #2 and #4: PTPS deficiency, Patient #3: DHPR deficiency. (B) Band intensities were quantified and ratios of p-S6K/S6K and LC3-II/actin were determined. Values represent means ± SD (n = 3 experiments). *p < 0.05. #, 0.1 < p < 1.0. (C) Levels of S6K and phosphorylated S6K in 50 µg of lymphocyte lysate protein from a healthy child (Normal #1) were compared with those in 250 µg of lymphocyte lysate protein from BH₄-responsive PKU patient (Patient #1). (D) Band intensities were quantified and the ratio of p-S6K/S6K or LC3-II/LC3-I in PKU patient was compared with that in normal control. Values represent means ± SD (n = 3 experiments). *p < 0.05.