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脑腱黄瘤病：血清26 - 羟基胆固醇降低

Cerebrotendinous xanthomatosis: reduced serum 26-hydroxycholesterol.

作者信息

Javitt N B, Kok E, Cohen B, Burstein S

出版信息

J Lipid Res. 1982 May;23(4):627-30.

PMID:7097127
Abstract

Serum 26-hydroxycholesterol was quantitated by isotope dilution-mass spectrometry in normal individuals and in patients with cerebrotendinous xanthomatosis. In the normal individuals, the concentration of 26-hydroxycholesterol in serum ranged from 4.3 to 13.0 microgram/100 ml. In five patients with CTX, 26-hydroxycholesterol in serum ranged from 0 to 0.6 microgram/100 ml. The findings can be explained by reduced or absent mitochondrial C27 steroid 26-hydroxylase activity. The method is useful for detection of CTX and perhaps other disturbances of sterol and bite acid metabolism.

摘要

采用同位素稀释-质谱分析法对正常人和脑腱性黄瘤病患者的血清26-羟基胆固醇进行定量分析。在正常个体中，血清26-羟基胆固醇浓度范围为4.3至13.0微克/100毫升。在5例脑腱性黄瘤病患者中，血清26-羟基胆固醇浓度范围为0至0.6微克/100毫升。这些发现可以通过线粒体C27类固醇26-羟化酶活性降低或缺乏来解释。该方法有助于检测脑腱性黄瘤病以及可能存在的其他固醇和胆汁酸代谢紊乱。

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Cerebrotendinous xanthomatosis: reduced serum 26-hydroxycholesterol.脑腱黄瘤病：血清26 - 羟基胆固醇降低
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Atherosclerosis and sterol 27-hydroxylase: evidence for a role of this enzyme in elimination of cholesterol from human macrophages.动脉粥样硬化与固醇27-羟化酶：该酶在人体巨噬细胞胆固醇清除中作用的证据
Proc Natl Acad Sci U S A. 1994 Aug 30;91(18):8592-6. doi: 10.1073/pnas.91.18.8592.
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Suppression of sterol 27-hydroxylase mRNA and transcriptional activity by bile acids in cultured rat hepatocytes.胆汁酸对培养大鼠肝细胞中胆固醇27-羟化酶mRNA及转录活性的抑制作用。
Biochem J. 1995 Jan 15;305 ( Pt 2)(Pt 2):505-11. doi: 10.1042/bj3050505.
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