ISSN:
1432-1440
Keywords:
Apolipoprotein C-II
;
Hypertriglyceridemia
;
Polymerase chain reaction
;
Mutation
;
Phenotypic variability
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract Screening for apolipoprotein (apo) C-II variants in the plasma of 400 students, 600 patients of a cardiological rehabilitation center, and 1200 patients of an outpatient lipid clinic by isoelectric focusing and subsequent anti-apo C-II immunoblotting led to the identification of four individuals whose plasma samples contained an apo C-II isoform with an abnormal isoelectric point. In all cases direct sequencing of PCR-amplified DNA assessed a heterozygous A to C transversion in codon 19 of the apo C-II gene which leads to the replacement of lysine with threonine. Two of the four index patients presented with moderate hypertriglyceridemia; one suffered from severe hyperlipidemia, with triglyceride levels ranging between 180 and 1900 mg/dl, depending on dietary changes. Sequencing of this proband's lipoprotein lipase gene showed no alteration compared to the wildtype sequence. A study in his family revealed that heterozygosity for apo C-II(K19T) is not associated with differences in mean lipid and lipoprotein concentrations. In conclusion, apo C-II(K19T) occurs in Germany at a frequency of approximately 1 in 550. Although this variant is not sufficient to cause hypertriglyceridemia, it may be possible that apo C-II(K19T) causes hypertriglyceridemia in the presence of additional as yet unidentified environmental and/or genetic factors.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00192889
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