Characterization of the GFAP c.1289G>A/p.R430H mutation. A: Schematic representation of the exonic structure of different GFAP isoforms. Dotted lines indicate the termination codons. The arrows indicate the position of the c.1289G>A variant (Note that in GFAP-κ the c.1289G>A mutation is part of the 3′-UTR). B: Electropherograms of GFAP exon 7A region containing c.1289G>A variant, in patients 1 and 2 (Pt1, Pt2) and in their mother (I-2). C: The histogram displays the percentages of cells transfected with GFP-GFAP-ϵwt (green bars) or GFP-GFAP-ϵR430H (purple bars), classified in filamentous pattern (F), cytoplasmic aggregates on a filamentous pattern (F + A), cytoplasmic aggregates with no filamentous pattern (A). Scale bars represent 15 μm. A total of 324 cells for GFP-GFAP-ϵwt and 285 for GFP-GFAP-ϵR430H, from 3 independent experiments, were blindly analyzed by two different operators. ANOVA test for interaction p = 0.001.
Melchionda et al. Orphanet Journal of Rare Diseases 2013 8:66 doi:10.1186/1750-1172-8-66