title: Abnormalities in collagenase expression as in vitro markers for recessive dystrophic epidermolysis bullosa.
abstract: In order to correlate a characteristic clinical phenotype with biochemical abnormalities in recessive dystrophic epidermolysis bullosa, fibroblast cultures were established from 4 typical patients with the severe form of the disease. Collagenase, the enzyme implicated in the pathogenesis of blistering, was present in vitro in 2- to 4-fold greater concentrations than in control fibroblast cultures. Partially purified preparations of this enzyme displayed marked thermal lability and diminished affinity for Ca2+, a metal cofactor, suggesting the existence of a mutant enzyme. The data suggest that these 3 biochemical abnormalities, increased synthesis, decreased thermal stability and diminished affinity for Ca2+, should serve as reliable in vitro markers for genetic discrimination of recessive dystrophic epidermolysis bullosa.
mesh_terms: D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D017364:Collagenases; D004792:Enzyme Precursors / Q000378:metabolism; D004820:Epidermolysis Bullosa / Q000175:diagnosis / Q000201:enzymology*; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008297:Male; D003012:Microbial Collagenase / Q000378:metabolism*; D012867:Skin / Q000201:enzymology
chemical_list: D004792:Enzyme Precursors; D017364:Collagenases; C022440:procollagenase; D003012:Microbial Collagenase