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. 2022 Jun 9;145(8):2687–2703. doi: 10.1093/brain/awac145

Figure 6.

Figure 6

Ultrastructural analysis of patient-derived fibroblasts. (A–C) Control fibroblasts. (D–Q) Fibroblasts from Patient 1 (D and E), Patient 2 (G–I), Patient 16 (L–N) and Patient 18 (O–Q). Fibroblasts from patients bearing ATP6V1A pathogenic variants showed several cytoplasmic single membrane-bounded vacuoles filled with heterogeneous substances, resembling autolysosomes (arrows in D, E, G, H, L, M, O and P). Vacuoles from patients’ fibroblasts were filled with various substances, such as lamellated membrane structures (arrowheads in F and N), osmiophilic material (asterisks in F, I and Q), electron-dense granular material (g in I) and substances with different electron-density (Q). N = nucleus; n = nucleolus; rer = rough endoplasmic reticulum; m: mitochondria; ly = lysosome; L = lipid droplets; arrows = cytoplasmic single membrane-bounded vacuoles; arrowheads = lamellated membrane structures; asterisks = osmiophilic material; g = electron-dense granular material. Scale bars = 2 µm (A, D, G, L and O), 1 µm (B and C), 500 nm (E, H, M and P), 200 nm (F, I, N and Q).