Figure 2.

Patient-Derived Lymphoblastoid Cell Lines Carrying an ALS-Associated CAV-Enhancer/Coding Variants Have Reduced Expression of CAV1/CAV2 and Disrupted MLR

Lymphoblastoid cells were derived from neurologically normal controls (n = 3, black), ALS patients without CAV-enhancer variants (n = 3, blue), ALS patients carrying CAV1-coding mutations (n = 3, magenta), and cells carrying a disease-associated chr7:116222625T>C-CAV1/CAV2 enhancer variant (red).

(A and B) Immunoblotting measurement of CAV1 protein expression relative to α-tubulin loading control with an example blot.

(C and D) qPCR measurement of CAV1 and CAV2 mRNA expression relative to mean expression in normal controls; expression normalized relative to loading control.

(E, G, and H) Measurement of MLR integrity by live-cell imaging and GM1 labeling with CTxB. CTxB fluorescence is plotted with example images. Scale bar, 50 μm.

(F) CAV1 protein expression is plotted versus MLR integrity as measured by CTxB fluorescence in the same cell line, with regression line (dotted).

Data presented as mean ± 1 SD. ^∗p < 0.05; ^∗∗p < 0.01; ^∗∗∗p < 0.001.