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. 2012 Dec 7;91(6):1095–1102. doi: 10.1016/j.ajhg.2012.10.008

Figure 4.

Figure 4

Caspase-Independent Apoptosis and Nuclear Localization of p.Glu493Val AIF

(A) TUNEL and DAPI staining of skeletal muscle nuclei from an affected subject (mut) and a control (WT). A normal biopsy treated with DNase was used a positive control (C+). Numerous TUNEL-positive nuclei are present in the affected subject, whereas no TUNEL-positive nuclei are seen in the control. Quantification of TUNEL-positive nuclei (n = 100) on the right.

(B) Quantification of altered nuclei in control fibroblasts (WT) and in fibroblasts from an affected individual (mut) after treatment with staurosporine (1 μM for 2 hr) in presence or absence of Z-VAD-fmk (100 μM for 0.5 hr).

(C) AIFM1 (1:1,000; Millipore, AB16501) immunostaining of cross section of muscle biopsy showing nuclear localization of mutant AIF in a subject hemizygous for p.Glu493Val (mut) compared to control (WT). Nuclei and mitochondria were counterstained with DAPI and mouse Tom20 antibody (BD Transduction Laboratory), respectively. AIF-positive nuclei were counted and normalized to the total number of DAPI-stained nuclei from three random and nonoverlapping fields (mean; SEM; p < 0.01).