Fig. 1

Perturbation of autophagy is detectable in muscle biopsies from patients with VPS13A disease and in muscles from Vps13a^−/− mice. (a) Western-blot (Wb) analysis with specific antibody against Vps13A in muscle biopsies from patients with VPS13A disease (Dis.; P) and healthy controls (HC). GAPDH served as loading control. Below, densitometric analysis, means ± SEM (n = 3); **p < 0.002, paired Student t-test. (b) OxyBlot analysis of soluble fractions prepared from muscle biopsies of patients with VPS13A disease (Dis.; P) and controls. GAPDH, loading control. Representative of 3 similar experiments. Right, densitometric analysis, means ± SEM (n = 3); **p < 0.002, Student t-test. (c) Western-blot (Wb) analysis with specific antibody against LC3-I/II in muscle biopsies from patients with VPS13A disease (Dis.; P) and controls. GAPDH, loading control. Right, densitometric analysis, means ± SEM (n = 3); **p < 0.002, Student t-test. (d) Western-blot (Wb) analysis with specific antibodies against LAMP1, LAMP2 and P62 in muscle biopsies from patients with VPS13A disease (Dis.; P) and controls. GAPDH, loading control. Below, densitometric analyses, means ± SEM (n = 3); **p < 0.002 by paired Student t-test. (e) Western-blot (Wb) analysis with specific antibody against Vps13A (VPS13A) in quadriceps lysate from wild type (WT) and Vps13a^-/- mice. GAPDH, loading control. Below, densitometric analysis, means ± SEM (n = 10); **p < 0.002 by unpaired Student’s t test. (f) Plasma creatine kinase (CK) levels (U/L) in wild type (WT) and Vps13a^-/- mice aged 4 and 8 months (mo) (n = 6–10); * p < 0.05 by non-parametric Mann Whitney test. (g) Western-blot (Wb) analysis with specific antibody against LC3-I/II in quadriceps lysate from WT and Vps13a^-/- female mice at ages 4, 8 and 12 mo. GAPDH, loading control. Right, densitometric analysis, means ± SEM (n = 4); *p < 0.002 by Mann-Whitney analysis.