GM2 GANGLIOSIDE LYSOSOMAL STORAGE DISEASE IN CATS WITH BETA-HEXOSAMINIDASE DEFICIENCY
GM2 GANGLIOSIDE LYSOSOMAL STORAGE DISEASE IN CATS WITH BETA-HEXOSAMINIDASE DEFICIENCY
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DOI：
10.1126/science.404709
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发表时间：
1977-01-01
期刊：
影响因子：
56.9
通讯作者：
RATTAZZI, MC
中科院分区：
文献类型：
--
作者：
CORK, LC;MUNNELL, JF;RATTAZZI, MC
两只患有进行性神经系统疾病的小猫大脑皮质中GM2神经节苷脂浓度升高。光学显微镜检查显示神经元和肝细胞存在细胞质空泡化。透射电镜和扫描电镜显示在中枢神经系统的多种细胞类型以及肝细胞中存在有膜包裹的细胞质内含物。患病小猫的脑、肝以及培养的皮肤成纤维细胞中β - D - N - 乙酰 - 己糖胺酶活性降至正常的约1.0%；该酶的两种主要电泳形式A和B均缺乏。在患病小猫父母的成纤维细胞中，这种酶的活性介于患病猫和正常猫之间，提示该酶缺陷为常染色体隐性遗传模式。组织病理学和超微结构病变、糖脂贮积、酶缺陷以及遗传模式与人GM2神经节苷脂贮积症2型相似。
Two kittens with progressive neurologic disease had increased concentrations of GM2 ganglioside in their cerebral cortex. Examination under the light microscope revealed cytoplasmic vacuolation of neurons and hepatocytes. Transmission and scanning electron microscopy demonstrated cytoplasmic inclusions encompassed by membranes in various CNS cell types and in hepatocytes. Beta-D-N-acetyl-hexosaminidase activity was reduced to about 1.0% of normal brain, liver and cultured skin fibroblasts of the diseased kittens; both major electrophoretic forms, A and B, of the enzyme were deficient. In fibroblasts from the parents of the diseased kittens, this enzyme activity was intermediate between that of affected and normal cats, suggesting an autosomal recessive mode of inheritance of the enzyme defect. Histopathological and ultrastructural lesions, glycolipid storage, enzyme defect and pattern of inheritance are similar to those of human GM2 gangliosidosis type 2.