Collagenase expression in skin fibroblasts from families with recessive dystrophic epidermolysis bullosa.
The collagenase production of cultured skin fibroblasts from Scandinavian families with dominant (D-EBD) and recessive (R-EBD) epidermolysis bullosa dystrophica has been investigated. Heterogeneity as a result of body location origin has been ruled out as fibroblasts obtained from predilection sites produce the same amount of immunoreactive collagenase as those obtained from non-predilection sites of the same subjects. Large variations in in vitro collagenase production were found between individuals and families. Within the R-EBD group, four out of eighteen patients showed an in vitro elevated level of immunoreactive collagenase compared to their healthy relatives, other EB types, and the control group. This shows that an in vitro elevated collagenase production is not a marker for the entire disease group and that the disease denoted as R-EBD probably is etiologically and pathogenetically heterogeneous.
Winberg
J O
JO
Department of Genetics, Norwegian Radiumhospital, Oslo.
Gedde-Dahl
T
T
Bauer
E A
EA
D001706:Biopsy; D002478:Cells, Cultured; D004797:Enzyme-Linked Immunosorbent Assay; D004820:Epidermolysis Bullosa / Q000201:enzymology* / Q000235:genetics; D005347:Fibroblasts / Q000201:enzymology; D005808:Genes, Recessive; D006801:Humans; D003012:Microbial Collagenase / Q000096:biosynthesis*; D012867:Skin / Q000201:enzymology*
D003012:Microbial Collagenase