Figure 6.

Expression of Drosophila ATAD3 Ortholog bor with p.Arg534Trp Variant in Muscle Causes a Decrease of Mitochondria

(A) Confocal micrographs of muscle from third instar larvae carrying C57-Gal4 together with UAS-empty (control), UAS-bor^WT, or UAS-bor^R534W. ATP5A (green) labels mitochondria. Phalloidin (red) labels actin. Scale bars represent 10 μm.

(B) TEM of muscle from third instar larvae carrying C57-Gal4 together with UAS-empty (control), UAS-bor^WT, or UAS-bor^R534W. Scale bars represent 500 nm.

(C) Quantification of ATP5A signal intensity in muscle of larvae carrying C57-Gal4, together with UAS-empty, UAS-bor^WT, or UAS-bor^R534W from confocal images (A).

(D) Quantification of mitochondrial length in muscle of larvae carrying C57-Gal4, together with UAS-empty, UAS-bor^WT, or UAS-bor^R534W from TEM images (B).

(E) TEM of fibroblasts from an affected individual (BAB8644, ATAD3A^p.R528W/+) and control (ATAD3A^+/+) fibroblasts. Scale bars represent 500 nm.

(F) Quantification of mitophagic vesicles (E, arrows) among all vesicles in affected (BAB8644, ATAD3A^R528W/+) and control (ATAD3A^+/+) fibroblasts.

(G) TEM of muscle from first instar larvae for bor mutants (bor^c05496/Df (3R)Excel7329) and control (bor^c05496/+). Scale bars represent 500 nm.

(H) Quantification of mitochondria per area in bor mutants (bor^c05496/Df (3R)Excel7329) and control (bor^c05496/+).

(C, D, F, H) Error bars indicate SEM. p values were calculated by Student’s t test. ^∗p < 0.05. ^∗∗∗p < 0.001. N.S. indicates not statistically significant.