Increased glycosaminoglycan accumulation as a genetic characteristic in cell cultures of one variety of dominant dystrophic epidermolysis bullosa.

Increased Accumulation of Sulfated Glycosaminoglycans in Cultures of Human Fibroblasts from Phenytoin-induced Gingival Overgrowth

“…-A modification of the method described by Bauer et al 13 was employed. Briefly, 48 h after seeding, the medium was removed, the cell layer was rinsed twice with Hank's buffered saline (HBS), and fresh SLM was adjusted to pH 6.8 with non-volatile buffers, 10 nM piperazine-N,N'bis (2-ethane-sulfonic acid) and 15 Then, 50 ,l of lOX 35S stock solution (100 ,uCi/ml of carrier-free H2 35 S04),tt made up in the low pH SLM, were added to the latter wells, to bring the total volume to 500 Al.…”

Autosomal dominant epidermolysis bullosa dystrophics: are the Cockayne‐ Touraine, the Pasini and the Bart‐types different expressions of the same mutant gene?

“…However, no difference can be made between P, CT or B (Fine et al 1984, Butler et al 1986). Bauer et al (1979) demonstrated increased amounts of glycosaminoglycans in fibroblast cultures of seven patients with P, suggesting an abnormal catabolism of acid mucopolysaccharide. Three patients with CT did not manifest increased accumulation of glycosaminoglycans, a finding which may indicate a biochemical heterogeneity between P and CT.…”

“…Histology, electron microscopy and immunofluorescent mapping studies are unable to show discrepancies between the three types. A biochemical heterogeneity between P and CT could exist (Bauer et al 1979), but this is contradicted by Oakley & Priestley. The question whether P, CT and B represent different expressions of the same mutant gene, or are the representatives related to different genes has not been solved yet.…”

Diagnosing Epidermolysis Bullosa

“…Later, Bauer & Eisen (1978) found increased synthesis of collagenase in vitro by recessive dystrophic EB fibroblasts but not by cells from other variants ofthe disease. The albopapuloid (Pasini) variant of dominant dystrophic EB has been differentiated from other forms of dominant or recessive dystrophic EB because fibroblasts from affected patients display an abnormality of glycosaminoglycan metabolism-probably increased synthesis (Bauer, Fiehler & Esterly, 1979). While providing insight into the pathogenesis of EB, biochemical analysis has not generally been employed as a first-line technique in diagnosis.…”