A study on the pathogeneses of hyperalphalipoproteinemia

在5例没有常见的胆固醇酯转移蛋白(CETP)突变的高脂蛋白血症患者中，发现了罕见的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。磷脂转运蛋白(PTP)活性用荧光测定法测定。对PTP活性较低的高脂蛋白血症患者的PTP基因进行了测序，但没有发现明确的突变。我们实验室正在建立更精确的PTP检测方法。利用荧光高密度脂蛋白和培养的淋巴细胞，用荧光分光光度法研究了脂蛋白血症患者的高密度脂蛋白结合蛋白活性。高脂蛋白血症患者与正常患者无显著差异。在确诊为高密度脂蛋白结合蛋白缺乏症患者之前，将使用该方法进行进一步筛查。

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.