APOLIPOPROTEIN E2-CHRISTCHURCH (136 ARG -] SER) - NEW VARIANT OF HUMAN APOLIPOPROTEIN-E IN A PATIENT WITH TYPE-III HYPERLIPOPROTEINEMIA
APOLIPOPROTEIN E2-CHRISTCHURCH (136 ARG -] SER) - NEW VARIANT OF HUMAN APOLIPOPROTEIN-E IN A PATIENT WITH TYPE-III HYPERLIPOPROTEINEMIA
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DOI：
10.1172/jci113096
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发表时间：
1987-08-01
影响因子：
15.9
通讯作者：
CARRELL, RW
中科院分区：
文献类型：
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作者：
WARDELL, MR;BRENNAN, SO;CARRELL, RW
研究了7例载脂蛋白E-2/2表型的III型高脂蛋白血症患者的载脂蛋白E（apoE）一级结构。6例患者具有相同的二维胰蛋白酶肽图谱。这些不同于正常的载脂蛋白E3地图的改变流动性的单一肽。氨基酸分析和测序显示这些患者的apo E2具有158个Arg →的取代。Cys 7例III型患者中有6例存在这种突变，证实这是apo E2最常见的形式。第七个III型患者具有独特的图谱，其具有由136个Arg →的取代产生的新肽。He对此和更常见的载脂蛋白E2（158 Arg → 158 Cys），变体。他的极低密度脂蛋白含有大约5倍于正常人的载脂蛋白E2（136 Arg → 136 Arg）。Ser）比载脂蛋白E2（158 Arg → Ser）高。Cys），如通过半胱胺处理和肽图谱测定的。因此，这种新的载脂蛋白E2突变体似乎对患者的高脂血症有显著影响。
The primary structure of apolipoprotein E (apo E) was investigated in seven type III hyperlipoproteinemic patients with the apo E-2/2 phenotype. Six of the patients had identical two-dimensional tryptic peptide maps. These differed from the normal apo E3 map by the altered mobility of a single peptide. Amino acid analysis and a sequencing showed that apo E2 in these patients had substitution of 158 Arg .fwdarw. Cys. The presence of this mutation in six of the seven type III patients confirms that this is the most common form of apo E2. The seventh type III patient had a unique map with a new peptide resulting from a substitution of 136 Arg .fwdarw. Ser. He was heterozygous for this and for the more common apo E2 (158 Arg .fwdarw. Cys), variant. His very low-density lipoprotein contained approximately five times more apo E2 (136 Arg .fwdarw. Ser) than apo E2 (158 Arg .fwdarw. Cys), as determined by cysteamine treatment and peptide mapping. This new apo E2 mutant thus appears to contribute significantly to the patient''s hyperlipidemia.