High-density lipoprotein metabolism, composition, function, and deficiency.
High-density lipoprotein metabolism, composition, function, and deficiency.
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DOI：
10.1097/mol.0000000000000074
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发表时间：
2014-06
影响因子：
4.4
通讯作者：
Asztalos BF
中科院分区：
文献类型：
--
作者：
Schaefer EJ;Anthanont P;Asztalos BF
我们的目的是检查最近的进展，我们的知识高密度脂蛋白（HDL）的代谢，组成，功能，冠心病（CHD），以及显着的HDL缺乏状态，由于在载脂蛋白（apo）A-I，ATP结合盒转移蛋白A1（ABCA 1），卵磷脂胆固醇酰基转移酶（LCAT）基因位点的突变。已证实apoA-I、髓过氧化物酶（MPO）和对氧磷酶1（PON 1）在HDL中形成复合物，该复合物对于HDL结合和功能至关重要。MPO对HDL功能有负面影响，而PON 1则有正面影响。缺乏apoA-I的患者发生显著的早发CHD。缺乏ABCA 1转运蛋白功能的患者仅具有非常小的盘状前β-1 HDL，并发生肝脾肿大、间歇性神经病变和早发CHD，尽管已报告了这些疾病的显著异质性。LCAT缺乏的患者具有异常的小盘状低密度脂蛋白和HDL颗粒，并发展为肾衰竭。酶替代疗法正在开发后一种疾病。最近的数据表明，除了apoA-I和apoA-II以外的蛋白质，如MPO和PON 1对HDL功能具有重要影响。最近，我们对HDL蛋白质含量和功能的理解取得了相当大的进展。
Our purpose was to examine recent advances in our knowledge of high density lipoprotein (HDL) metabolism, composition, function, and coronary heart disease (CHD), as well as marked HDL deficiency states due to mutations at the apolipoprotein (apo) A-I, ATP binding cassette transfer protein A1 (ABCA1), and lecithin cholesterol acyltransferase (LCAT) gene loci. It has been documented that apoA-I, myeloperoxidase (MPO), and paraoxonase 1 (PON1) form a complex in HDL that is critical for HDL binding and function. MPO has a negative impact on HDL function, while PON1 has a beneficial effect. Patients that lack apoA-I develop markedly premature CHD. Patients that lack ABCA1 transporter function have only very small discoidal preβ-1 HDL, and develop hepatosplenomegaly, intermittent neuropathy and premature CHD, although significant heterogeneity for these disorders has been reported. Patients with LCAT deficiency have abnormal small discoidal low density lipoproteins and HDL particles, and develop kidney failure. Enzyme replacement therapy is being developed for the latter disorder. Recent data indicates that proteins other than apoA-I and apoA-II such as MPO and PON1 have important effects on HDL function. There has been considerable recent progress made in our understanding of HDL protein content and function.