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Fig. 3 | Molecular Neurodegeneration

Fig. 3

From: Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy

Fig. 3

Inherited optic neuropathy MIEF1 mutations do not disrupt MID51 localization or oligomerization, but preferentially affect its ability to regulate mitochondrial network dynamics. a and b Representative live-cell confocal images and quantification of mCherry-tagged MID51 (WT; p.Y240N; p.R146W) showing MID51 localization to mitochondria (mEmerald-Mito). (n = 100 cells from 3 experiments/ per condition). Scale bar, 10 μm (inset, 1 μm). c-i Representative immunoblot (α-myc) and quantification of MID51 oligomerization into dimer, tetramer, or high molecular weight (HMW) species from IP (myc) of myc-tagged MID51 (WT; p.Y240N; p.R146W) and control (−-). Mutants MID51 p.Y240N (d-f) and MID51 p.R146W (g-i) show similar oligomerization compared to wild-type MID51 (WT). (n = 3 experiments/per condition). j-m Representative confocal live-cell images and traces (j and k) and analysis (l and m) of mito-PAGFP fluorescence intensity in distal region (10 μm from the site of mitochondrial photoactivation) in high spatial and temporal resolution confocal microscopy live imaging studies, showing increased mitochondrial fusion (white arrows) in wild-type MID51 (WT) condition which is not observed in mutant MID51 p.Y240N and p.R146W conditions. (n = 8 cells (control); n = 9 cells (WT); n = 16 cells (p.Y240N); n = 30 cells (p.R146W), from 3 experiments/per condition). Scale bar, 5 μm. Data are means ± s.e.m. (N.S. = not significant; **P < 0.01; ***P < 0.001; unpaired two-tailed t test (d-i); ANOVA with Tukey’s post-hoc test (b, l, m))

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