FIGURE 2:

Gene and protein expression of Cav-1 and cavin-1 in human fibroblasts. (A) Cav1 gene expression was similar among three fibroblast lines derived from control subjects and three lines derived from Cav1* patients. (B) Total Cav1 protein levels were investigated using an antibody against the N-terminal in WT Cav1 and Cav1*. There was no significant change in total Cav1 protein level in Cav1* fibroblasts. An antibody against the C-terminal, which is changed due to the frameshift mutation in Cav1*, was used to detect nonmutated/WT Cav1. Results indicated that all three patient cells were heterozygous for c.474delA mutation; that is, cells contained ∼50% nonmutated Cav1 expression compared with WT fibroblasts. (C) Cavin1 levels were significantly decreased in Cav1* human fibroblasts.