Takahashi T, Nishio H, Kodama S, Nakamura H
Department of Pediatrics, Kobe University School of Medicine, Japan.
Brain Dev. 1990;12(2):202-5. doi: 10.1016/s0387-7604(12)80325-1.
We examined the property of beta-D-glucosidase in normal child liver, spleen and brain tissues and in tissues affected by Gaucher disease using two different kinds of synthetic substrates, 2-hexadecanoylamino-4-nitrophenyl-beta-D-glucopyranoside (HN Glc) and 4-methylumbelliferyl-beta-D-glucopyranoside (MU Glc). HN glucosidase activity was noted only in the particulate fraction of each organ tissues of the normal child, and it was deficient in the tissue affected by Gaucher disease. MU glucosidase activity in the whole homogenate and the soluble fraction showed normal levels for the liver and brain tissue of the Gaucher patient. However, MU glucosidase activity in the particulate fraction, at the vicinity of pH 4.5, for the liver, spleen and brain tissue was deficient in the affected patient. HN Glc was a very easy and useful substrate for the diagnosis of Gaucher disease, but it was not very sensitive. While MU Glc was very sensitive, it was necessary to remove the non-specific beta-D-glucosidase for the diagnosis of Gaucher disease.
我们使用两种不同的合成底物，即2-十六烷酰氨基-4-硝基苯基-β-D-吡喃葡萄糖苷（HN Glc）和4-甲基伞形酮基-β-D-吡喃葡萄糖苷（MU Glc），检测了正常儿童肝脏、脾脏和脑组织以及受戈谢病影响的组织中的β-D-葡萄糖苷酶特性。HN葡萄糖苷酶活性仅在正常儿童各器官组织的微粒体部分被检测到，而在受戈谢病影响的组织中缺乏该活性。MU葡萄糖苷酶在全匀浆和可溶性部分的活性，对于戈谢病患者的肝脏和脑组织来说显示为正常水平。然而，在pH 4.5附近，受影响患者肝脏、脾脏和脑组织微粒体部分的MU葡萄糖苷酶活性缺乏。HN Glc是诊断戈谢病非常简便且有用的底物，但它不是很敏感。虽然MU Glc非常敏感，但为了诊断戈谢病，有必要去除非特异性β-D-葡萄糖苷酶。
