Suzuki Y, Nakamura N, Fukuoka K
Hum Genet. 1978 Aug 31;43(2):127-31. doi: 10.1007/BF00293589.
Uptake of radioactivity from 14C-galactose into gangliosides by cultured skin fibroblasts was studied. GM3 was the major ganglioside in control human fibroblasts. An increase of GM1 was demonstrated in GM1-gangliosidosis fibroblasts. The degree of GM1 accumulation was correlated with the clinical types of this disease. The fibroblasts from an infantile-type patient showed a marked increase of GM1. In late-onset types the amount of total gangliosides was only slightly increased, but the distribution of individual gangliosides was definitely abnormal; a relative increase of GM1 was demonstrated in these cases. GM1 beta-galactosidase activities were not detectable in either infantile or late-onset cases.
研究了培养的皮肤成纤维细胞对14C-半乳糖放射性摄取进入神经节苷脂的情况。GM3是正常人成纤维细胞中的主要神经节苷脂。GM1神经节苷脂沉积症成纤维细胞中GM1有所增加。GM1积累的程度与该疾病的临床类型相关。婴儿型患者的成纤维细胞显示GM1显著增加。在晚发型病例中，总神经节苷脂的量仅略有增加，但单个神经节苷脂的分布明显异常；这些病例中GM1相对增加。在婴儿型或晚发型病例中均未检测到GM1β-半乳糖苷酶活性。
