Biochemical and immunological studies of fibroblasts derived from a patient with Ehlers-Danlos syndrome type IV. Demonstrate reduced type III collagen synthesis.
Fibroblasts derived from a skin biopsy of a patient with the Ehlers-Danlos syndrome (EDS) type IV were cultured in monolayer. The amount of collagen synthesized during a 24-h pulse was not different from that found with normal fibroblasts. Chromatographic procedures and immunofluorescence staining showed a normal synthesis of type I procollagen and collagen but a deficiency in synthesis of type III procollagen and collagen. This could be corroborated by radioimmuno assays showing a reduction in type III procollagen by about 90%. The secretion and degradation of collagens was not altered. The results demonstrate that the molecular defect in this particular patient is due to an impairment of the mechanism controlling the gene expression for type III procollagen.
D002478:Cells, Cultured; D002648:Child; D003094:Collagen / Q000096:biosynthesis*; D004535:Ehlers-Danlos Syndrome / Q000276:immunology / Q000378:metabolism*; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D008297:Male; D011347:Procollagen / Q000096:biosynthesis
D011347:Procollagen; D003094:Collagen