青少年透明纤维瘤病：人类皮肤成纤维细胞中胶原蛋白代谢受损
Juvenile hyaline fibromatosis: impaired collagen metabolism in human skin fibroblasts.
作者信息
Breier F, Fang-Kircher S, Wolff K, Jurecka W
机构信息
Department of Dermatology, Lainz Municipal Hospital, Vienna, Austria.
出版信息
Arch Dis Child. 1997 Nov;77(5):436-40. doi: 10.1136/adc.77.5.436.
Abstract
Juvenile hyaline fibromatosis (JHF) is inherited as a fatal autosomal recessive disorder characterised by multiple tumorous mucocutaneous proliferations. In this paper a 14 month old girl with JHF is described. For this condition, a malfunction of collagen synthesis is considered as the pathogenetic cause. Recently published data have revealed an absent band for type III collagen (TIIIC) chain in western blot studies of clinically unaffected JHF skin. Therefore supernatants of skin fibroblast cell cultures, obtained from normal human skin, were analysed for type 1 collagen (TIC) and TIIIC metabolites by radioimmunoassays. Besides the typical morphological connective tissue changes in the skin lesions, TIC synthesis and degradation were found increased in JHF fibroblasts compared with control fibroblasts. In contrast, TIIIC overall metabolism was significantly reduced by 36% compared with controls.
摘要
青少年透明纤维瘤病（JHF）是一种遗传性致命常染色体隐性疾病，其特征为多发性肿瘤性黏膜皮肤增殖。本文描述了一名患有JHF的14个月大女童。对于这种疾病，胶原蛋白合成功能障碍被认为是发病原因。最近公布的数据显示，在临床未受影响的JHF皮肤的蛋白质印迹研究中，III型胶原（TIIIC）链条带缺失。因此，通过放射免疫分析法分析了从正常人体皮肤获得的皮肤成纤维细胞培养上清液中的I型胶原（TIC）和TIIIC代谢产物。除了皮肤病变中典型的形态学结缔组织变化外，与对照成纤维细胞相比，JHF成纤维细胞中TIC的合成和降解增加。相比之下，与对照相比，TIIIC的整体代谢显著降低了36%。
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