Marked HDL deficiency and premature coronary heart disease.
Marked HDL deficiency and premature coronary heart disease.
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DOI：
10.1097/mol.0b013e32833c1ef6
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发表时间：
2010-08
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;Santos RD;Asztalos BF
我们的目的是回顾最近发表的关于人类明显的高密度脂蛋白缺乏、高密度脂蛋白颗粒、冠心病(CHD)、淀粉样变性、免疫反应和肾脏疾病的文献。缺乏可检测到的血浆载脂蛋白(Apo)A-I可能是由于APOA1基因内的DNA缺失、重排或无义或移码突变导致apoA-I分泌不足。这些患者有明显的高密度脂蛋白缺乏，甘油三酯和低密度脂蛋白水平正常，并可能有黄瘤和过早的CHD。ApoA-I变异的氨基酸替换，特别是在氨基酸残基50-93和170-178区域，与淀粉样变性有关。纯合子丹吉尔病患者由于三磷酸腺苷结合盒转运体A1突变、可检测到的血浆载脂蛋白A-I水平和血浆中前β-1高密度脂蛋白水平而导致细胞胆固醇外流缺陷。他们降低了低密度脂蛋白的胆固醇水平，并可能发展为神经疾病和过早的CHD。卵磷脂：胆固醇酰基转移酶缺乏症患者的血浆中同时存在前β-1和α-4高密度脂蛋白，并出现角膜混浊、贫血、蛋白尿和肾衰竭。明显缺乏高密度脂蛋白的患者，根据潜在缺陷的不同，他们的临床表型会有很大的差异。
Our purpose is to review recent publications in the area of marked human HDL deficiency, HDL particles, coronary heart disease (CHD), amyloidosis, the immune response, and kidney disease. Lack of detectable plasma apolipoprotein (apo) A-I can be due to DNA deletions, rearrangements, or nonsense or frameshift mutations within the APOA1 gene resulting in a lack of apoA-I secretion. Such patients have marked HDL deficiency, normal levels of triglycerides and LDL cholesterol, and can have xanthomas and premature CHD. ApoA-I variants with amino acid substitutions, especially in the region of amino acid residues 50–93 and 170–178, have been associated with amyloidosis. Patients with homozygous Tangier disease have defective cellular cholesterol efflux due to mutations in the adenosine triphosphate-binding cassette transporter A1, detectable plasma apoA-I levels and preβ-1 HDL in their plasma. They have decreased LDL cholesterol levels and can develop neuropathy and premature CHD. Patients with lecithin : cholesterol acyltransferase deficiency have both preβ-1 and α-4 HDL present in their plasma and develop corneal opacities, anemia, proteinuria, and kidney failure. Patients with marked HDL deficiency can have great differences in their clinical phenotype depending on the underlying defect.