Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
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DOI：
10.1002/humu.1380010602
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发表时间：
1992-01-01
期刊：
影响因子：
3.9
通讯作者：
Goldstein, Joseph L.
中科院分区：
文献类型：
--
作者：
Hobbs, Helen H.;Brown, Michael S.;Goldstein, Joseph L.
低密度脂蛋白（LDL）受体是一种细胞表面跨膜蛋白，介导血浆LDL的摄取和溶酶体降解，从而为细胞提供胆固醇。破坏该受体功能的突变产生常染色体显性遗传家族性高胆固醇血症（FH）。受影响的个体具有升高的血浆LDL水平，其导致过早的冠状动脉粥样硬化。迄今为止，LDL受体基因中的71个突变已在分子水平上得到表征。在这份报告中，我们描述了79个额外的突变和审查的见解，所有150个突变提供了受体蛋白的结构/功能关系和FH的临床表现。
The low density lipoprotein (LDL) receptor is a cell surface transmembrane protein that mediates the uptake and lysosomal degradation of plasma LDL, thereby providing cholesterol to cells. Mutations disrupting the function of this receptor produce autosomal dominant familial hypercholesterolemia (FH). Affected individuals have elevated plasma levels of LDL, which causes premature coronary atherosclerosis. To date, 71 mutations in the LDL receptor gene have been characterized at a molecular level. In this report, we describe 79 additional mutations and review the insights that all 150 mutations have provided into the structure/function relationship of the receptor protein and the clinical manifestations of FH.