A new type of carbohydrate-deficient glycoprotein syndrome due to a decreased import of GDP-fucose into the golgi
A new type of carbohydrate-deficient glycoprotein syndrome due to a decreased import of GDP-fucose into the golgi
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DOI：
10.1074/jbc.274.37.25986
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发表时间：
1999-09-10
影响因子：
4.8
通讯作者：
Körner, C
中科院分区：
文献类型：
--
作者：
Lübke, T;Marquardt, T;Körner, C
发现糖蛋白的岩藻糖基化在具有类似于白细胞粘附缺陷II型（LAD II）的临床表型的患者中缺乏。虽然在LAD II中，糖缀合物的低岩藻糖基化继发于由于GDP-D-甘露糖-4，6-脱氢酶缺乏而导致的GDP-岩藻糖合成受损，但在我们的患者中GDP-岩藻糖的合成是正常的（Korner，C.，Linnebank，NI，Koch，H.，Harms，E.，von Figura，K.，和马夸特，T.，等人（1999）J. Leukoc，Biol.，印刷中）。富含高尔基体的囊泡中的GDP-岩藻糖的输入由可饱和的、高亲和力的和不饱和的组分组成。在我们的患者中，GDP-岩藻糖的可饱和的高亲和力的输入是缺乏的，而UDP-半乳糖的输入和产生GDP-岩藻糖反向转运所需的核苷磷酸的GDP 3的活性是正常的。我们认为，这种新形式的碳水化合物缺乏糖蛋白综合征是由受损的进口到高尔基体的GDP岩藻糖。
The fucosylation of glycoproteins was found to be deficient in a patient with a clinical phenotype resembling that of leukocyte adhesion deficiency type II (LAD II). While in LAD II hypofucosylation of glycoconjugates is secondary to an impaired synthesis of GDP-fucose due to a deficiency of the GDP-D-mannose-4,6-dehydratase, synthesis of GDP-fucose was normal in our patient (korner, C., Linnebank, NI, Koch, H., Harms, E., von Figura, K., and Marquardt, T., (1999) J. Leukoc, Biol., in press). Import of GDP-fucose into Golgi-enriched vesicles was composed of a saturable, high affinity and a nonsaturable component, In our patient the saturable high affinity import of GDP-fucose was deficient, while import of UDP-galactose and the activity of GDPase, which generates the nucleoside phosphate required for antiport of GDP-fucose, were normal, Addition of L-fucose to the medium of fibroblasts restored the fucosylation of glycoproteins. We propose that this new form of carbohydrate-deficient glycoprotein syndrome is caused by impaired import of GDP-fucose into the Golgi.