GM1-gangliosidosis: Accumulation of ganglioside GM1 in cultured skin fibroblasts and correlation with clinical types |
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| Authors: | Yoshiyuki Suzuki Norimasa Nakamura Kazuko Fukuoka |
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| Institution: | (1) Department of Pediatrics, Faculty of Medicine, University of Tokyo, Hongo, Bunkyo-ku, 113 Tokyo, Japan;(2) Present address: Department of Pediatrics, Institute of Clinical Science, Tsukuba University, Ibaragi, Japan |
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| Abstract: | Summary 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  -galactosidase activities were not detectable in either infantile or late-onset cases. |
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