Apolipoprotein C-II deficiency: detection of immunoreactive apolipoprotein C-II in the intestinal mucosa of two patients.
Recent data suggest that mutant immunoreactive forms of apolipoprotein C-II (apoC-II) can be detected in the plasma of patients with the apoC-II deficiency syndrome. We studied the possible presence of apoC-II mutants in the plasma of two patients with apoC-II deficiency by immunological means. The patients were hypertriglyceridemic, and apoC-II was undetectable in plasma as determined by radial immunodiffusion, electroimmunoassay, and immunonephelometry. Furthermore, apoC-II was undetectable either by electrophoresis or by immunoblotting in the plasma of the probands, while apoC-II was present in the plasma of their parents, although at less than half-normal concentration. Immunochemical localization of apoC-II, however, showed that the apoprotein could be detected within the enterocytes obtained from the intestinal mucosa of the patients. From these data we conclude that the patients synthesize apoC-II, at least in the intestine.
Capurso
A
A
Istituto di Clinica Medica II, Universitá di Bari, Italy.
Mogavero
A M
AM
Resta
F
F
Di Tommaso
M
M
Taverniti
P
P
Turturro
F
F
La Rosa
M
M
Marcovina
S
S
Catapano
A L
AL
D053304:Apolipoprotein C-II; D001056:Apolipoproteins C / Q000172:deficiency* / Q000276:immunology / Q000302:isolation & purification; D002648:Child; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D006801:Humans; D007120:Immunochemistry; D007413:Intestinal Mucosa / Q000032:analysis*; D007525:Isoelectric Focusing; D008297:Male; D009154:Mutation; D009391:Nephelometry and Turbidimetry
D053304:Apolipoprotein C-II; D001056:Apolipoproteins C