Apolipoprotein E deficiency with a depressed mRNA of normal size.
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. (J. Biol. Chem., 260 (1985) 12891).
Kurosaka
D
D
Department of Internal Medicine, Sagamihara National Hospital, Kanagawa, Japan.
Teramoto
T
T
Matsushima
T
T
Yokoyama
T
T
Yamada
A
A
Aikawa
T
T
Miyamoto
Y
Y
Kurokawa
K
K
D000328:Adult; D001057:Apolipoproteins E / Q000096:biosynthesis / Q000172:deficiency* / Q000235:genetics; D002478:Cells, Cultured; D002784:Cholesterol / Q000097:blood; D004591:Electrophoresis, Polyacrylamide Gel; D006801:Humans; D006949:Hyperlipidemias / Q000097:blood* / Q000235:genetics; D008264:Macrophages / Q000378:metabolism; D008297:Male; D012333:RNA, Messenger / Q000032:analysis*; D014280:Triglycerides / Q000097:blood
D001057:Apolipoproteins E; D012333:RNA, Messenger; D014280:Triglycerides; D002784:Cholesterol