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首页> 外文期刊>Clinical lipidology. >Familial combined hypolipidemia due to mutations in the ANGPTL3 gene
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Familial combined hypolipidemia due to mutations in the ANGPTL3 gene

机译：由于ANGPTL3基因突变而导致的家族性合并低脂血症

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摘要

The role of ANGPTL3 in lipoprotein metabolism emerged from studies in a mutant mouse strain characterized by severe hypotriglyceridemia and carrying a loss-of-function (LOF) mutation of the ANGPTL3 gene. ANGPTL3 was found to inhibit lipoprotein lipase and endothelial lipase. Genome-wide association studies in humans demonstrated the association of ANGPTL3 variants with plasma triglyceride levels and LOF mutations of ANGPTL3 were found in hypotriglyceridemic subjects in population studies. Recently, individuals originally classified as affected by familial hypobetalipoproteinemia were found to be homozygotes/compound heterozygotes for rare LOF mutations of ANGPTL3. They show a striking reduction of all lipoprotein classes (VLDL, LDL and HDL), a condition defined as familial combined hypolipidemia. This disorder, transmitted as a recessive trait, does not seem to be associated with specific clinical manifestations, such as premature atherosclerosis or fatty liver disease.
机译：ANGPTL3在脂蛋白代谢中的作用源于对突变小鼠品系的研究，该品系的特征是严重的低甘油三酯血症并带有ANGPTL3基因的功能丧失（LOF）突变。发现ANGPTL3抑制脂蛋白脂肪酶和内皮脂肪酶。人类全基因组关联研究表明，在人群甘油三酯血症人群中发现ANGPTL3变异与血浆甘油三酸酯水平相关，并且发现ANGPTL3的LOF突变。最近，发现最初归类为家族性低血脂蛋白血症的个体是ANGPTL3罕见LOF突变的纯合子/复合杂合子。他们显示出所有脂蛋白类别（VLDL，LDL和HDL）的显着降低，这种疾病被定义为家族性合并低脂血症。这种以隐性性状传播的疾病似乎与特定的临床表现无关，例如过早的动脉粥样硬化或脂肪肝疾病。

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