Departamento de Química Biológica, Facultad de Ciencias Químicas, Centro de Investigaciones en Química Biológica de Córdoba, Universidad Nacional de Córdoba, Ciudad Universitaria, X5000 HUA Córdoba, Argentina.
J Biol Chem. 2010 Dec 31;285(53):41472-82. doi: 10.1074/jbc.M110.150011. Epub 2010 Nov 3.
The COG (conserved oligomeric Golgi complex) is a Golgi-associated tethering complex involved in retrograde trafficking of multiple Golgi enzymes. COG deficiencies lead to misorganization of the Golgi, defective trafficking of glycosylation enzymes, and abnormal N-, O- and ceramide-linked oligosaccharides. Here, we show that in Cog2 null mutant ldlC cells, the content of sphingomyelin (SM) is reduced to ∼25% of WT cells. Sphingomyelin synthase (SMS) activity is essentially normal in ldlC cells, but in contrast with the typical Golgi localization in WT cells, in ldlC cells, transfected SMS1 localizes to vesicular structures scattered throughout the cytoplasm, which show almost no signal of co-transfected ceramide transfer protein (CERT). Cog2 transfection restores SM formation and the typical SMS1 Golgi localization phenotype. Adding exogenous N-6-[(7-nitrobenzo-2-oxa-1,3-diazol-4-yl)amino]hexanoyl-4-d-erythro-sphingosine (C(6)-NBD-ceramide) to ldlC cell cultures results in normal SM formation. Endogenous ceramide levels were 3-fold higher in ldlC cells than in WT cells, indicating that Golgi misorganization caused by Cog2 deficiency affects the delivery of ceramide to sites of SM synthesis by SMS1. Considering the importance of SM as a structural component of membranes, this finding is also worth of consideration in relation to a possible contribution to the clinical phenotype of patients suffering congenital disorders of glycosylation type II.
COG(保守寡聚高尔基体复合物)是一种与高尔基体相关的连接复合物,参与多种高尔基体酶的逆行运输。COG 缺陷导致高尔基体结构紊乱、糖基化酶运输缺陷以及 N-、O-和神经酰胺连接的寡糖异常。在这里,我们发现 Cog2 缺失突变体 ldlC 细胞中的神经酰胺(SM)含量减少到 WT 细胞的约 25%。ldlC 细胞中的鞘氨醇合酶(SMS)活性基本正常,但与 WT 细胞中典型的高尔基体定位不同,在 ldlC 细胞中,转染的 SMS1 定位于散布在整个细胞质中的囊泡结构中,这些结构几乎没有共转染的神经酰胺转移蛋白(CERT)信号。Cog2 转染恢复了 SM 的形成和典型的 SMS1 高尔基体定位表型。向 ldlC 细胞培养物中添加外源性 N-6-[(7-硝基苯并-2-氧代-1,3-二唑-4-基)氨基]己酰基-4-d-赤型-鞘氨醇(C(6)-NBD-神经酰胺)可导致正常 SM 的形成。ldlC 细胞中的内源性神经酰胺水平比 WT 细胞高 3 倍,表明由于 Cog2 缺陷导致的高尔基体结构紊乱影响了 SMS1 将神经酰胺递送到 SM 合成部位。考虑到 SM 作为膜结构成分的重要性,这一发现也值得考虑,因为它可能对患有 II 型先天性糖基化障碍的患者的临床表型有一定的贡献。