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唐氏综合征中的多元醇谱。具体而言,脑脊液中的肌醇水平升高。

Polyol profiles in Down syndrome. myo-Inositol, specifically, is elevated in the cerebrospinal fluid.

作者信息

Shetty H U, Schapiro M B, Holloway H W, Rapoport S I

机构信息

Laboratory of Neurosciences, National Institute of Aging, National Institutes of Health, Bethesda, Maryland 20892.

出版信息

J Clin Invest. 1995 Feb;95(2):542-6. doi: 10.1172/JCI117696.

Abstract

Polyols are reduction products of aldoses and ketoses; their concentrations in tissues can reflect carbohydrate metabolism. Several polyol species were quantitated in cerebrospinal fluid (CSF) and plasma from 10 Down Syndrome (trisomy 21) subjects between the ages of 22 and 63 years (3 of whom were demented) and from 10 healthy age-matched controls, using a gas chromatographic/mass spectrometric technique. The mean CSF concentration and the mean CSF/plasma concentration ratio of myo-inositol were significantly elevated in Down syndrome compared with controls, but were not correlated with the presence of dementia in the Down subjects. Plasma myo-inositol was not significantly altered in these subjects. No significant difference between Down syndrome and controls was found for CSF concentrations of mannitol, sorbitol, galactitol, ribitol, arabitol, or 1,5-anhydrosorbitol, but plasma mannitol, ribitol and arabitol were elevated in Down syndrome. The present observation provides new impetus for studying synthesis and transport of myo-inositol as well as phosphatidylinositol cycle in trisomy 21 disorder.

摘要

多元醇是醛糖和酮糖的还原产物;它们在组织中的浓度可以反映碳水化合物代谢情况。采用气相色谱/质谱技术,对10名年龄在22至63岁之间的唐氏综合征(21三体)患者(其中3名患有痴呆症)以及10名年龄匹配的健康对照者的脑脊液(CSF)和血浆中的几种多元醇进行了定量分析。与对照组相比,唐氏综合征患者脑脊液中肌醇的平均浓度和脑脊液/血浆浓度平均比值显著升高,但与唐氏综合征患者中痴呆症的存在无关。这些受试者的血浆肌醇没有显著变化。唐氏综合征患者与对照组的脑脊液中甘露醇、山梨醇、半乳糖醇、核糖醇、阿拉伯糖醇或1,5-脱水山梨醇的浓度没有显著差异,但唐氏综合征患者的血浆甘露醇、核糖醇和阿拉伯糖醇升高。本观察结果为研究21三体疾病中肌醇的合成与转运以及磷脂酰肌醇循环提供了新的动力。

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