INFANTILE AND FETAL GLOBOID-CELL LEUKODYSTROPHY - ANALYSIS OF GALACTOSYLCERAMIDE AND GALACTOSYLSPHINGOSINE
INFANTILE AND FETAL GLOBOID-CELL LEUKODYSTROPHY - ANALYSIS OF GALACTOSYLCERAMIDE AND GALACTOSYLSPHINGOSINE
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DOI：
10.1002/ana.410240407
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发表时间：
1988-10-01
影响因子：
11.2
通讯作者：
SUZUKI, K
中科院分区：
文献类型：
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作者：
KOBAYASHI, T;GOTO, I;SUZUKI, K
半乳糖基神经酰胺和半乳糖基鞘氨醇（psychosine）进行了测定的组织从婴儿和胎儿与球样细胞脑白质营养不良（GLD）。神经组织或其他器官中的半乳糖神经酰胺浓度未增加。我们采用灵敏的检测方法，发现半乳糖基鞘氨醇在婴儿和胎儿的GLD组织中积聚，这表明GLD是一种全身性半乳糖基鞘氨醇沉积病。在患有GLD的婴儿的脑、脊髓和坐骨神经以及患有GLD的胎儿的脊髓中观察到高半乳糖基鞘氨醇水平，其中注意到GLD的特征性病变。在没有形态学变化的组织中，如体器官和胎儿GLD的大脑，半乳糖鞘氨醇浓度较低。这些结果表明，半乳糖鞘氨醇的积累和GLD的发病机制之间存在着密切的关系。半乳糖神经鞘氨醇（而非半乳糖神经酰胺）在GLD组织中蓄积的发现可以通过我们先前的观察来解释，即半乳糖神经酰胺（而非半乳糖神经鞘氨醇）易于被完整的半乳糖神经酰胺酶II水解，该酶II在遗传上不同于半乳糖神经酰胺I。
Galactosylceramide and galactosylsphingosine (psychosine) were assayed in tissues from infants and fetuses with globoid cell leukodystrophy (GLD). Galactosylceramide concentrations were not increased in nervous tissues or other organs. Using a sensitive assay method, we found galactosylphingosine accumulations in GLD tissues, both infantile and fetal, which suggests that GLD is a generalized galactosylsphingosine storage disease. High galactosylsphingosine levels were observed in the brain, spinal cord, and sciatic nerve of infants with GLD and in the spinal cord of a fetus with GLD, where lesions characteristic to GLD were noted. In tissues without morphological changes, such as somatic organs and the brain in fetal GLD, galactosylsphingosine concentrations were low. These results suggest that a close relationship exists between galactosylsphingosine accumulation and the pathogenesis of GLD. The finding that galactosylsphingosine, but not galactosylceramide, accumulates in the tissue of GLD can be explained by our previous observation that galactosylceramide, but not galactosylsphingosine, is readily hydrolyzed by an intact galactosylceramidase II, which is genetically distinct from galactosylceramide I.