Figure 3.

Western Blots Demonstrate Decreased mTOR Signaling in Fibroblasts of Affected Individuals

Levels of PS6 isoforms Ser235/236 (A) and Ser240/244 (B) were lower in fibroblasts harboring mutant TBCK (from individual 2-1) than in control cells. The blot demonstrates that levels of PS6 isoform Ser235/236 were, on average, 36% (range 31%–41%, SEM ± 5) lower in fibroblasts with mutant TBCK than in control fibroblasts (p < 0.05). There was no change in the level of non-phosphorylated S6 or mTOR in either LCLs or fibroblasts containing TBCK mutations. GAPDH was used as a loading control.