STUDIES OF RED CELL STROMAL PROTEINS IN TAY-SACHS DISEASE
STUDIES OF RED CELL STROMAL PROTEINS IN TAY-SACHS DISEASE
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DOI：
10.1172/jci105876
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发表时间：
1968-01-01
影响因子：
15.9
通讯作者：
KYRIAKIDES, EC
中科院分区：
文献类型：
--
作者：
BALINT, JA;KYRIAKIDES, EC
本文分析了9例Tay-Sachs病患者和14例正常人的无血红蛋白红细胞血影的总蛋白、己糖胺、氨基酸和唾液酸含量。泰-萨二氏病患儿红细胞血影中蛋白质、氨基己糖、苏氨酸和丝氨酸的含量显著增加，可能还有唾液酸，每种蛋白质的含量都比对照值增加了约25[degree]/o。这些观察结果表明，与正常人相比，泰-萨二氏病患者的红细胞膜含有显著过量的糖蛋白或蛋白质，因此，这种疾病的代谢缺陷影响糖蛋白以及复合脂质。
Hemoglobin-free red blood cell ghosts of 9 patients with Tay-Sachs disease and 14 normal control subjects were analyzed for content of total protein, hexosamines, individual amino acids, and sialic acid. Red cell ghosts from Tay-Sachs children contained significantly increased amounts of protein, hexosamine, threonine, and serine, and probably sialic acid, each of which was increased by approximately 25[degree]/o over control values. These observations suggest that the red cell membrane in patients with Tay-Sachs disease contains a significant excess of a glycoprotein or proteins, as compared with normal, and that the metabolic defect in this disease, therefore, affects glycoproteins as well as complex lipids.