Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion
Figure 2
(a, b) SMN immunoreactivity in fibroblasts obtained from the proband (scale bar = 10 μm): a faint (red) staining was present within nuclear structures (actin filaments counterstained in green) in vehicle-treated cells (VEH), while VPA 5 mM/72 h induced an apparent density increase of SMN-positive nuclear aggregates; (c) acetyl-histone H3 association with SMN promoter was increased in fibroblast obtained from the proband following exposure to VPA 5 mM/72 h, as semiquantified by ChIP assay (); (d) SMN-like immunoreactive content in fibroblasts obtained from the proband is increased following in vitro exposure to VPA, as semiquantified by Western blotting (); (e) (Western blotting) SMN-like immunoreactive content in fibroblasts obtained from 12 SALS patients is reduced with respect to 9 matched controls (), as also shown by (f) representative immunoreactive signals (10 μg of total protein) obtained in 5 different SALS patients and 4 CTRL subjects.
