基因亚型
化学
高尔基体
糖基化
生物化学
背景(考古学)
蛋白多糖
硫酸可拉坦
糖蛋白
免疫印迹
硫酸软骨素
糖胺聚糖
分子生物学
生物
内质网
细胞外基质
基因
古生物学
作者
Walid Haouari,Johanne Dubail,Samra Lounis‐Ouaras,Pierre Prada,Rizk Bennani,Charles Roseau,Céline Huber,Alexandra Afenjar,Estelle Colin,Sandrine Vuillaumier‐Barrot,Nathalie Seta,François Foulquier,Christian Poüs,Valérie Cormier‐Daire,Arnaud Bruneel
摘要
Bikunin (Bkn) isoforms are serum chondroitin sulfate (CS) proteoglycans synthesized by the liver. They include two light forms, that is, the Bkn core protein and the Bkn linked to the CS chain (urinary trypsin inhibitor [UTI]), and two heavy forms, that is, pro-α-trypsin inhibitor and inter-α-trypsin inhibitor, corresponding to UTI esterified by one or two heavy chains glycoproteins, respectively. We previously showed that the Western-blot analysis of the light forms could allow the fast and easy detection of patients with linkeropathy, deficient in enzymes involved in the synthesis of the initial common tetrasaccharide linker of glycosaminoglycans. Here, we analyzed all serum Bkn isoforms in a context of congenital disorders of glycosylation (CDG) and showed very specific abnormal patterns suggesting potential interests for their screening and diagnosis. In particular, genetic deficiencies in V-ATPase (ATP6V0A2-CDG, CCDC115-CDG, ATP6AP1-CDG), in Golgi manganese homeostasis (TMEM165-CDG) and in the N-acetyl-glucosamine Golgi transport (SLC35A3-CDG) all share specific abnormal Bkn patterns. Furthermore, for each studied linkeropathy, we show that the light abnormal Bkn could be further in-depth characterized by two-dimensional electrophoresis. Moreover, besides being interesting as a specific biomarker of both CDG and linkeropathies, Bkn isoforms' analyses can provide new insights into the pathophysiology of the aforementioned diseases.
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