Aberrant expressions of decorin and biglycan genes in the carbohydrate-deficient glycoprotein syndrome.
Carbohydrate-deficient glycoprotein syndrome (CDGS) is a congenital disorder characterized by neurological and developmental defects. We have examined the expressions of the small proteoglycans decorin and biglycan in cultured skin fibroblasts from a patient with CDGS Type-I. Northern blotting analysis identified a marked reduction in decorin mRNA and an increase in biglycan mRNA levels. The decorin protein in the culture medium was decreased. Responses to interleukin-1 beta (IL-1 beta) and transforming growth factor-beta 1 (TGF-beta 1) were apparently abnormal; decorin was only slightly up-regulated by IL-1 beta, while biglycan was markedly down-regulated by IL-1 beta and significantly up-regulated by TGF-beta 1. The constitutional and developmental abnormalities characteristic of CDGS may be associated with such derangements in the expression of proteoglycan genes.
D058578:Biglycan; D015152:Blotting, Northern; D015153:Blotting, Western; D002478:Cells, Cultured; D002675:Child, Preschool; D018981:Congenital Disorders of Glycosylation / Q000235:genetics / Q000378:metabolism*; D058575:Decorin; D016326:Extracellular Matrix Proteins; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D015870:Gene Expression / Q000235:genetics; D005987:Glyceraldehyde-3-Phosphate Dehydrogenases / Q000235:genetics / Q000378:metabolism; D006801:Humans; D007375:Interleukin-1 / Q000494:pharmacology; D011509:Proteoglycans / Q000235:genetics* / Q000378:metabolism; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D016212:Transforming Growth Factor beta / Q000494:pharmacology
C546884:BGN protein, human; D058578:Biglycan; C546878:DCN protein, human; D058575:Decorin; D016326:Extracellular Matrix Proteins; D007375:Interleukin-1; D011509:Proteoglycans; D012333:RNA, Messenger; D016212:Transforming Growth Factor beta; D005987:Glyceraldehyde-3-Phosphate Dehydrogenases