Apolipoprotein C-II deficiency: identification of a structural variant ApoC-II Padova.
Apolipoprotein(apo) C-II DNA, RNA and protein from a patient with a familial deficiency of apoC-II were evaluated and compared to normal individuals. No major defect of the apoC-II gene could be detected by Southern blot hybridization. Northern and slot blot analyses of total liver RNA documented normal levels of a normal sized apoC-II mRNA. Immunohistochemical studies of the liver of the apoC-II deficient patient revealed a normal to slightly elevated intracellular content of the C-II apolipoprotein. Plasma apoC-II was 3 to 5% of normal apoC-II levels and exhibited abnormal electrophoretic mobility on two dimensional gel electrophoresis and immunoblotting. We postulate that at the molecular level, the deficiency of apoC-II in the plasma of this patient results from a structural defect in the coding portion of the apoC-II gene leading to either defective secretion of cellular apoC-II or increased catabolism of a structurally defective apoC-II in plasma.
Fojo
S S
SS
Molecular Disease Branch, National Heart, Lung and Blood Institute, Bethesda, MD 20892.
Baggio
G
G
Gabelli
C
C
Higuchi
K
K
Bojanovski
M
M
Gregg
R E
RE
Brewer
H B
HB
D053304:Apolipoprotein C-II; D001056:Apolipoproteins C / Q000097:blood / Q000172:deficiency / Q000235:genetics*; D004247:DNA / Q000235:genetics; D014644:Genetic Variation; D006801:Humans; D008099:Liver / Q000166:cytology / Q000378:metabolism / Q000473:pathology; D009693:Nucleic Acid Hybridization; D012016:Reference Values
D053304:Apolipoprotein C-II; D001056:Apolipoproteins C; D004247:DNA