Connective tissue metabolism in culture fibroblasts of a patient with Ehlers-Danlos syndrome type I.
Study on connective tissue metabolism was conducted with a patient with Ehlers-Danlos syndrome (E-D) of Type I who visited our institute. The conversion of procollagen into tropocollagen in the medium of cultured fibroblasts was assayed by the chase technique using 3H-proline. The conversion was inhibited in the cultured fibroblasts of the patient. The components of glycosaminoglycans in cultured medium and fibroblasts from E-D were within normal ranges, however, the ratio of glycoprotein to glycosaminoglycans of intra- and extra-cellular fractions of E-D fibroblasts was higher than the normal one. These findings suggest that the insufficient maturation of collagen fiber may be considered fundamental disorders of E-D.
D000293:Adolescent; D003094:Collagen / Q000096:biosynthesis; D003238:Connective Tissue / Q000378:metabolism*; D004535:Ehlers-Danlos Syndrome / Q000201:enzymology / Q000378:metabolism*; D005347:Fibroblasts / Q000378:metabolism; D006023:Glycoproteins / Q000378:metabolism; D006025:Glycosaminoglycans / Q000378:metabolism; D006601:Hexoses / Q000378:metabolism; D006801:Humans; D066298:In Vitro Techniques; D008297:Male; D011348:Procollagen N-Endopeptidase / Q000378:metabolism
D006023:Glycoproteins; D006025:Glycosaminoglycans; D006601:Hexoses; D003094:Collagen; D011348:Procollagen N-Endopeptidase