@article{oai:sapmed.repo.nii.ac.jp:00014812,
 author = {舘, 睦子},
 issue = {2},
 journal = {札幌医学雑誌 = The Sapporo medical journal, The Sapporo medical journal},
 month = {Apr},
 note = {It has been demonstrated that glycolipids of the globo-and ganglioseries accumulate in brains with GM1-gangliosidosis and Tay-Sachs disease （T-S dis.）, although they are not detected in differentiated normal brains and cannot be explained by representative glycosidase deficiencies. The present study was undertaken to elucidate the metabolic mechanism responsible for the glycolipid accumulation in brains with these two diseases, in comparison with control human brains at different stages of differentiation. A simple method for glycosyltransferase assay using ion-exchange chromatography was developed and employed for this purpose. 1） The activity of globotriaosylceramied （Gb3 Cer） synthase was hardly detectable in unaffected embryo brains, and seemed to be a rate-limiting enzyme of the synthesis of globoseries. However, enzyme activity was detected in infants, and showed significant levels in the two diseases （3 in 4 cases of GM1-gangliosidosis and all 3 cases of T-S dis.）. Globotetraosylceramide （Gb4Cer） synthase activity was low in the fetal stage and gradually increased in the normal infant. The brains with GM1-gangliosidosis and T-S dis. showed similar activity as that of the infant. These results endorsed the synthetic occurrence of globoseries glycolipids in the brains of the two diseases. 2） In the normal brains, activity of gangliotriaosylceramide （Gg3Cer） synthase was detected only in the early fetal period, while that of gangliotetraosylceramide （Gg4Cer） synthase was very difficult to ?detect in developing infant brains. All GM1-gangliosidosis brains showed higher levels of the two enzyme activities, expressing early embryonic level. The accumulation of Gg4Cer in the GM1-gang-liosidosis brains seemed to be caused not only by catabolic β-galactosidase deficiency, but also by a higher level of Gg4Cer synthase and sialidase which forms Gg4Cer from GM1. 3） Activities of GM3, GM2 and GM1 synthases showed high levels in unaffected embryonic stage and decreased thereafter except for GM3 synthase. In many cases of the two gangliosidoses, higher levels of these enzymes were detected when compared to those of age-matched controls. On the other hand, although GD3 synthase was much less active in developing infant brains and T-S brains, the enzyme was significantly elevated in all the GM1-gangliosidosis brains of the two subtypes, being characteristic of the diseased brains.},
 pages = {137--149},
 title = {GM1-gangliosidosisおよびTay-Sachs病の脳組織における異所性糖脂質発現に関する研究},
 volume = {58},
 year = {1989}
}