[家族性高胆固醇样表型异质性的分子基础]。

Lü-Ya Wang, Jie Lin, Shu Liu, Bao-Sheng Chen
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引用次数: 0

摘要

家族性高胆固醇血症(Familial hypercholesterolemia, FH)是由低密度脂蛋白(LDL)受体突变引起的,可导致LDL- r功能障碍和高血浆LDL水平,并可早发心血管疾病。LDL-R突变被认为是FH表型的唯一原因。然而,最近的研究证据表明,另外6种基因突变也可以通过不同的机制导致FH样表型。进一步研究这些基因将阐明血浆LDL调控机制,为fh样表型患者的诊断和治疗提供分子基础。本文综述了近年来fh样表型异质性的分子基础研究,希望引起人们对该病的更多关注。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[Molecular basis of familial hypercholesterolemia-like phenotype heterogeneity].

Familial hypercholesterolemia (FH),which is caused by low-density lipoprotein (LDL) receptor mutation, leads to LDL-R dysfunction and high plasma LDL level and early onset of cardiovascular disease. LDL-R mutation has been regarded as the only cause of FH phenotype. However, evidences from recent studies showed that another six gene mutations can also result in FH like phenotype through different mechanism. Further studies on these genes will clarify the mechanism of plasma LDL regulation and provide the molecular basis for the diagnosis and treatment of patients with FH-like phenotype. This review summarizes recent studies on the molecular basis of FH-like phenotype heterogeneity in the hope of drawing more attention to the disease.

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