Figure 1. Brains of TSC Patients and CNS-Knockout Mouse Models Have Reduced Ciliated Neurons that Are Restored by Rapamycin In Vivo.
(A) Heatmap of differential cilia gene expression (red, low; green, high) in healthy control brains (non-TSC, n = 8) and TSC patient brains (TSC/tuber, n = 16; p < 0.005).
(B) Representative confocal images of epileptic brain specimens from non-TSC (a and d) and TSC (b, c, e, and f), patients stained with SMI311 (giant cell, green),ACIII (cilia, red), and Hoechst (nuclei, blue). white arrows indicate cilia.
(C) Quantification of ciliation in the human tissues (non-TSC n = 6; TSC n = 6; Kruskal-Wallis test, with Dunn’s multiple comparison test, *p < 0.05, ns, nonsignificant).Data represent mean ± SEM.
(D) Representative confocal images of hippocampi from vehicle-treated Tsc2 control (n = 5) and Tsc2 mutant (n = 6) and from rapamycin (Rapa)-treated Tsc2 control (n=5) and Tsc2 mutant (n=8) mice. Sections were stained with ACIII (red, a-d; grayscale, e-h) and with NeuN (green, a–d).
(E) Quantification of the percentage of ciliated neurons (400 neurons/mouse; one-way ANOVA with Tukey’s post hoc test, *p < 0.05, ns, non-significant). Data are mean ± SEM. Scale bars are 10 μm.