Markedly reduced bile acid synthesis but maintained levels of cholesterol and vitamin D metabolites in mice with disrupted sterol 27-hydroxylase gene
Markedly reduced bile acid synthesis but maintained levels of cholesterol and vitamin D metabolites in mice with disrupted sterol 27-hydroxylase gene
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DOI：
10.1074/jbc.273.24.14805
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发表时间：
1998-06-12
影响因子：
4.8
通讯作者：
Leitersdorf, E
中科院分区：
文献类型：
--
作者：
Rosen, H;Reshef, A;Leitersdorf, E
在胆固醇转化为胆汁酸的过程中，类固醇27-羟基酶对类固醇侧链的降解起着重要的作用，并被认为在胆固醇稳态中起着调节作用。它的缺失导致常染色体隐性遗传病脑腱黄瘤病(CTX)，其特征是进行性痴呆、黄瘤病和加速的动脉粥样硬化。Cyp27(-/-)基因突变的小鼠血浆胆固醇、视黄醇、生育酚和1，25-二羟基维生素D水平正常，粪便胆汁酸排泄减少(
Sterol 27-hydroxylase is important for the degradation of the steroid side chain in conversion of cholesterol into bile acids and has been ascribed a regulatory role in cholesterol homeostasis. Its deficiency causes the autosomal recessive disease cerebrotendinous xanthomatosis (CTX), characterized by progressive dementia, xanthomatosis, and accelerated atherosclerosis. Mice with a disrupted cyp27 (cyp27(-/-)) had normal plasma levels of cholesterol, retinol, tocopherol, and 1,25-dihydroxyvitamin D. Excretion of fecal bile acids was decreased (