Biochemical findings in a breeding colony of Alaskan Huskies suffering from GM1-gangliosidosis
Biochemical findings in a breeding colony of Alaskan Huskies suffering from GM1-gangliosidosis
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DOI：
10.1023/a:1005323212440
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发表时间：
1998-06-01
影响因子：
4.2
通讯作者：
Kustermann-Kuhn, B
中科院分区：
文献类型：
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作者：
Müller, G;Baumgärtner, W;Kustermann-Kuhn, B
研究了三只患有GM 1神经节苷脂沉积症的阿拉斯加哈士奇，27只相关犬和7只年龄和性别匹配的对照。从4-7月龄开始，这些动物表现出比例性侏儒症和进行性神经功能障碍。系谱分析表明，一个常染色体隐性遗传模式与变量的表现。10只专性杂合子犬的β-半乳糖苷酶活性为278单位或更低，而正常犬的β-半乳糖苷酶活性为482单位或更高。受累犬的成纤维细胞中α-N-乙酰神经氨酸酶活性正常，其他溶酶体水解酶（如六亚甲基氨酶A和α-氨基葡萄糖苷酶）轻度升高。脾脏和脊髓神经节苷脂含量升高。尿液中特定的低聚糖增加。哈士奇GM 1神经节苷脂沉积症的形态学和生化特征与其他物种相似，特别是人类形式的幼年型疾病。
Three Alaskan Huskies suffering from GM1-gangliosidosis, 27 related dogs, and 7 age- and sex-matched controls were studied. Diseased animals showed proportional dwarfism and progressive neurological impairment from 4-7 months of age. Pedigree analysis indicated an autosomally recessive pattern of inheritance with variable expressivity. 10 dogs which were obligate heterozygotes showed an intermediate β-galactosidase activity of 278 units or less; in normal dogs it was 482 units or higher. Affected dogs showed normal α-N-acetylneuraminidase activity in fibroblasts and a mild elevation of other lysosomal hydrolases such as hexaminidase A and α-glucosaminidase. The ganglioside content of the spleen and spinal cord was elevated. Specific oligosaccharides were increased in the urine. Morphological and biochemical features of GM1-gangliosidosis in the huskies resembled those of other species, particularly the juvenile type of the human form of the disease.