APOLIPOPROTEIN-E DEFICIENCY WITH A DEPRESSED MESSENGER-RNA OF NORMAL SIZE

被引：35

作者：

KUROSAKA, D ^{[1
]}

TERAMOTO, T ^{[1
]}

MATSUSHIMA, T ^{[1
]}

YOKOYAMA, T ^{[1
]}

YAMADA, A ^{[1
]}

AIKAWA, T ^{[1
]}

MIYAMOTO, Y ^{[1
]}

KUROKAWA, K ^{[1
]}

机构：

[1] UNIV TOKYO,FAC MED,DEPT INTERNAL MED 1,TOKYO 113,JAPAN

来源：

ATHEROSCLEROSIS | 1991年 / 88卷 / 01期

关键词：

APOLIPOPROTEIN-E DEFICIENCY; APOLIPOPROTEIN-E; MESSENGER RNA; TYPE-III HYPERLIPIDEMIA; MONOCYTE;

D O I：

10.1016/0021-9150(91)90252-X

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We studied a 39-year-old man who had palmar xanthomas complicated with marked hyperlipidemia. His serum cholesterol and triglyceride were 2000 and 6300 mg/dl, respectively. Serum apolipoprotein E (apo E) was undetectable in the patient by the methods of single radial immunodiffusion, sodium dodecyl sulfate-polyacrylamide gel electrophoresis, and radioimmunoassay. Serum apo E concentrations of his father and sister were low. This evidence is consistent with a diagnosis of familial apo E deficiency. We studied the synthesis of apo E in cultures of peripheral blood monocyte macrophages (M-M cultures) obtained from the patient, and detected no secretion of apo E in the culture medium and no newly synthesized apo E in the cell lysate. There were only trace amounts of apo E mRNA of the M-M cultures and the size of the mRNA appeared the same as normal apo E mRNA, indicating a different mutation of the gene from that of the case reported by Zannis et al.

引用

页码：15 / 20

页数：6

共 18 条

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