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II型高胆固醇血症患者单核细胞中的胆固醇酯水解酶活性。

Cholesteryl ester hydrolase activity in mononuclear cells from patients with type II hypercholesterolemia.

作者信息

Hagemenas F C, Manaugh L C, Illingworth D R, Sundberg E E, Yatsu F M

出版信息

Atherosclerosis. 1984 Mar;50(3):335-44. doi: 10.1016/0021-9150(84)90080-7.

DOI:10.1016/0021-9150(84)90080-7
PMID:6712778
Abstract

Cholesteryl ester hydrolase (CEH) activity was measured in freshly isolated mononuclear cells from patients with primary Type II hypercholesterolemia, heterozygous familial hypercholesterolemia (FH) and familial combined hyperlipidemia (CFH). CEH activity was significantly lower in mononuclear cells from Type II patients than in cells from matched normolipidemic individuals. Moreover, the reduced CEH activity in cells from the hypercholesterolemic patients was accompanied by significant accumulation of cholesteryl ester. This pattern of reduced CEH activity and cholesteryl ester accumulation was identical for cells from both the FH and CFH patients. Since low density lipoprotein (LDL) cholesterol concentrations were higher in the Type II patients, we incubated mononuclear cells from normolipidemic individuals with high concentrations of LDL-cholesterol (greater than 150 mg/dl). Under these conditions CEH activity was significantly decreased, cholesteryl ester content increased, and cholesterol linoleate, in particular, accumulated. These data suggest that the intracellular accumulation of cholesteryl esters is determined in part by the extracellular concentrations of LDL-cholesterol and by the activity of CEH within the cells.

摘要

对原发性II型高胆固醇血症患者、杂合子家族性高胆固醇血症(FH)患者和家族性混合性高脂血症(CFH)患者新鲜分离的单核细胞中的胆固醇酯水解酶(CEH)活性进行了测定。II型患者单核细胞中的CEH活性显著低于血脂正常个体的细胞。此外,高胆固醇血症患者细胞中CEH活性降低伴随着胆固醇酯的显著积累。FH和CFH患者细胞的CEH活性降低和胆固醇酯积累模式相同。由于II型患者的低密度脂蛋白(LDL)胆固醇浓度较高,我们用高浓度的LDL胆固醇(大于150mg/dl)孵育血脂正常个体的单核细胞。在这些条件下,CEH活性显著降低,胆固醇酯含量增加,尤其是胆固醇亚油酸酯积累。这些数据表明,胆固醇酯的细胞内积累部分取决于细胞外LDL胆固醇的浓度和细胞内CEH的活性。

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Cholesteryl ester hydrolase activity in mononuclear cells from patients with type II hypercholesterolemia.II型高胆固醇血症患者单核细胞中的胆固醇酯水解酶活性。
Atherosclerosis. 1984 Mar;50(3):335-44. doi: 10.1016/0021-9150(84)90080-7.
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Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease.在患有胆固醇酯贮积病的家族中出现与沃尔曼病相关的突变。
J Inherit Metab Dis. 1995;18(5):620-3. doi: 10.1007/BF02436008.
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A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease.在一名患有胆固醇酯贮积病的患者中,剪接连接突变导致溶酶体酸性脂肪酶的mRNA缺失一个72个碱基的外显子。
J Clin Invest. 1993 Dec;92(6):2713-8. doi: 10.1172/JCI116888.
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Analysis of the physical state of cholesteryl esters in arterial-smooth-muscle-derived foam cells by differential scanning calorimetry.
采用差示扫描量热法分析动脉平滑肌来源泡沫细胞中胆固醇酯的物理状态。
Biochem J. 1990 Jun 15;268(3):693-7. doi: 10.1042/bj2680693.