Ghiselli G, Gaddi A, Barozzi G, Ciarrocchi A, Descovich G
Department of Medicine, Baylor College of Medicine, Houston, TX.
Metabolism. 1992 Aug;41(8):833-8. doi: 10.1016/0026-0495(92)90163-5.
Familial Hypercholesterolemia (FH) is a condition characterized by markedly elevated blood cholesterol, low-density lipoproteins (LDL), and apolipoprotein B-100 (apo B). The molecular basis of this monogenic disease is the defective functioning of the cellular receptor for LDL that recognizes apo B. Lipoprotein(a) [Lp(a)] is a circulating lipoprotein that is structurally related to LDL, as it also contains apo B. To assess the impact of the LDL receptor deficiency on the plasma Lp(a) concentration, we measured Lp(a) in 28 FH patients and in 31 unaffected relatives. Because elevation of Lp(a) concentration in plasma of patients with coronary artery disease (CAD) appears to occur independently from plasma cholesterol levels, to avoid potentially confounding problems, members of the families chosen had no history for the disease. Whereas apo B clearly showed a bimodality of distribution by being significantly higher in the FH patients (166 +/- 38 mg/dL) than in the unaffected relatives (92 +/- 18 mg/dL), Lp(a) concentration did not differ in the two groups of patients (30 +/- 24 mg/dL in the FH patients v 31 +/- 23 in the normolipidemic relatives). Similar results were obtained when only siblings were further considered. We conclude that although Lp(a) is closely related to LDL structurally, its level in plasma is not significantly affected by the LDL receptor activity.
家族性高胆固醇血症（FH）是一种以血液胆固醇、低密度脂蛋白（LDL）和载脂蛋白B - 100（apo B）显著升高为特征的病症。这种单基因疾病的分子基础是识别apo B的LDL细胞受体功能缺陷。脂蛋白（a）[Lp（a）]是一种循环脂蛋白，在结构上与LDL相关，因为它也含有apo B。为了评估LDL受体缺陷对血浆Lp（a）浓度的影响，我们测量了28例FH患者和31名未受影响亲属的Lp（a）。由于冠状动脉疾病（CAD）患者血浆中Lp（a）浓度的升高似乎独立于血浆胆固醇水平发生，为避免潜在的混淆问题，所选家族成员均无该疾病病史。虽然apo B明显呈现双峰分布，在FH患者中（166±38 mg/dL）显著高于未受影响的亲属（92±18 mg/dL），但两组患者的Lp（a）浓度并无差异（FH患者为30±24 mg/dL，血脂正常的亲属为31±23 mg/dL）。仅进一步考虑兄弟姐妹时也得到了类似结果。我们得出结论，尽管Lp（a）在结构上与LDL密切相关，但其血浆水平不受LDL受体活性的显著影响。
