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. 2018 Feb 22;102(3):494–504. doi: 10.1016/j.ajhg.2018.01.020

Figure 3.

Figure 3

Subject-Derived Cells Carrying a c.245C>T (p.Pro82Leu) ATP5F1D Variant Exhibit a Decreased Number of Cristae

(A) TEM of cultured skin fibroblasts from an unaffected control individual and subject 1 (S1) (p.Pro82Leu).

(B) TEM of iPSC-derived cardiomyocytes. Red arrows show mitochondria devoid of cristae in cells from affected individual S1 (p.Pro82Leu). Black arrows indicate nascent sarcomeres. Scale bar: 500 nm.

(C) Quantification of mitochondrial size in control and subject 1 (p.Pro82Leu) fibroblasts. Error bars indicate SEM, and p values were calculated by Student’s t test. N.S. indicates not statistically significant.

(D) Quantification of the number of cristae per mitochondrion in control and subject 1 (p.Pro82Leu) fibroblasts. Error bars indicate SEM, and p values were calculated by Student’s t test (∗∗∗p < 0.001).

(E) Quantification of the mitochondrial area in control and subject 1 (p.Pro82Leu) iPSC-derived cardiomyocytes. Quartiles and minimum and maximum values are shown, and p values were calculated by an unpaired two-tailed t test (p = 0.03).

(F) Quantification of the number of cristae per mitochondrion in control and subject 1 (p.Pro82Leu) iPSC-derived cardiomyocytes. Quartiles and minimum and maximum values are shown, and p values were calculated by an unpaired t test (p < 0.001).