A study on the pathogeneses of hyperalphalipoproteinemia

高α脂蛋白血症发病机制的研究

• 批准号: 08670411
• 负责人: CHIBA Hitoshi
• 金额: $ 1.15万
• 依托单位: HOKKAIDO UNIVERSITY
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 1996
• 资助国家: 日本
• 起止时间: 1996 至 1997
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-08670411/
• 关键词: HDL; cholesterol; cholesteryl ester transfer protein; Phospholipid transfer protein; HDL-binding protein; HDL受容体

Rare Known mutations and unknown mutations in the cholesteryl ester transfer Protein (CETP) gene were searched in five patients with hyperalphalipoproteinemia without common CETP mutations. Inspite of the low CETP activity in each patient, no definite gene mutation was not identified. Further sutdies are ongoing for a large deletion or insertion and for a mutation in flanking regions.Phospholipid transfer protein (PTP) acitivity was measured by fluorometric assay.The PTP gene was sequenced in hyperalphalipoproteinemic patients with lower PTP activities, but no definite mutation was identified. More precise PTP assay is being established in our laboratory.HDL-binding protein activity was studied in alphalipoproteinemic patients by fluorometric assay using fluorescent HDL and cultured lymphocytes. No significant difference was observed in hyperalphalipoproteinemic patients from normals.Further screening using this method will be done until a patient with HDL-binding protein deficiency is identifed.

在5例无常见胆固醇酯转移蛋白（CETP）基因突变的高脂蛋白血症患者中，检索了CETP基因的罕见已知突变和未知突变。尽管每个患者的CETP活性都很低，但没有发现明确的基因突变。用荧光法检测PTP活性，对PTP活性较低的高脂血症患者进行PTP基因测序，未发现突变。本实验室采用荧光高密度脂蛋白（HDL）和培养的淋巴细胞，用荧光法研究了高密度脂蛋白血症患者的HDL结合蛋白活性。在高脂蛋白血症患者和正常人中没有观察到显著差异，将使用该方法进行进一步筛查，直到确定HDL结合蛋白缺乏的患者。

项目成果

Chiba H: "Quantitative and compositional change in high density lipoprotein subclasses in patients with various genotypes of CETP deficiency" Journal of Lipid Research. 38・6. 1204-1216 (1997)

Chiba H：“CETP 缺乏的各种基因型患者中高密度脂蛋白亚类的数量和成分变化”《脂质研究杂志》38・6（1997 年）。

Chiba, H.: "Quantitative and compositional changes in high density lipoprotein subclasses in patients with various genotypes of cholesteryl ester transfer protein deficiency" J Lipid Res. 38. 1204-1216 (1997)

Chiba, H.：“具有各种胆固醇酯转移蛋白缺陷基因型的患者中高密度脂蛋白亚类的数量和成分变化”J Lipid Res。

Kamigaki, M.: "A case of familial hypercholesterolemia with CETP deficiency" Internal Medicine. (in press). (1998)

Kamigaki, M.：“一例伴有 CETP 缺乏的家族性高胆固醇血症”内科。

Chiba H: "Quantitative and compositional change in high density lipoprotein subclasses in patients with various genotypes of CETP deficiency" Journal of Lipid Research. (印刷中).

Chiba H：“不同基因型 CETP 缺乏症患者高密度脂蛋白亚类的数量和成分变化”《脂质研究杂志》（正在出版）。

Chiba H: "Quartitative and compositional change in high density lipoprotein subclasses in patients with various genotypes of CETP deficiency" Journal of Lipid Research. 38・6. 1204-1216 (1997)

Chiba H：“CETP 缺乏的各种基因型患者中高密度脂蛋白亚类的定量和组成变化”《脂质研究杂志》38・6（1997 年）。