Gu J, Wada Y
Department of Molecular Medicine, Osaka Medical Center.
J Biochem. 1995 Jun;117(6):1276-9. doi: 10.1093/oxfordjournals.jbchem.a124855.
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.
糖基缺乏糖蛋白综合征（CDGS）是一种以神经和发育缺陷为特征的先天性疾病。我们检测了一名I型CDGS患者培养的皮肤成纤维细胞中小蛋白聚糖核心蛋白聚糖和双糖链蛋白聚糖的表达。Northern印迹分析显示核心蛋白聚糖mRNA显著减少，双糖链蛋白聚糖mRNA水平增加。培养基中的核心蛋白聚糖蛋白减少。对白细胞介素-1β（IL-1β）和转化生长因子-β1（TGF-β1）的反应明显异常；IL-1β仅轻微上调核心蛋白聚糖，而IL-1β显著下调双糖链蛋白聚糖，TGF-β1则显著上调双糖链蛋白聚糖。CDGS的先天性和发育异常特征可能与蛋白聚糖基因表达的这种紊乱有关。
