HDL metabolic activities in a boy with lipoprotein lipase deficiency and his family

Background  Lipoprotein lipase (LPL) deficiency is a rare autosomal recessively inherited disease characterized by elevated triglyceride, low total cholesterol and quantitative and qualitative alterations of high‐density lipoprotein (HDL). The aim of the present study was to explore HDL metabolic ac...

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Bibliographic Details
Published in:European journal of clinical investigation 2004-07, Vol.34 (7), p.467-474
Main Authors: Brites, F., Verona, J., Fernández, K., Henriksen, F., Fruchart, J., Cesar, M., Castro, G., Wikinski, R.
Format: Article
Language:English
Subjects:
Apolipoprotein A-I - metabolism
Apolipoprotein A-II - metabolism
Aryldialkylphosphatase - metabolism
Biological and medical sciences
Carrier Proteins - metabolism
Child, Preschool
Cholesterol Ester Transfer Proteins
Cholesterol, HDL - metabolism
Errors of metabolism
Female
General aspects
Glycoproteins - metabolism
Heterozygote
Humans
Hypertriglyceridaemia
hypoalphalipoproteinaemia
Lipids (lysosomal enzyme disorders, storage diseases)
Lipoprotein Lipase - deficiency
Lipoprotein Lipase - genetics
Male
Medical sciences
Metabolic diseases
paraoxonase 1
Pedigree
platelet-activating factor acetylhydrolase
reverse cholesterol transport
two-dimensional electrophoresis
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Summary:Background  Lipoprotein lipase (LPL) deficiency is a rare autosomal recessively inherited disease characterized by elevated triglyceride, low total cholesterol and quantitative and qualitative alterations of high‐density lipoprotein (HDL). The aim of the present study was to explore HDL metabolic activities in a patient with LPL deficiency and in his family (n = 11). Materials and methods  Subjects were divided into four groups: proband (Ser447Stop/Arg170Leu carrier), Ser447Stop carriers, Arg170Leu carriers and silent mutation/wild‐type carriers (controls). Cholesterol efflux from Fu5AH cells, lecithin:cholesterol acyltransferase (LCAT), cholesteryl ester transfer protein (CETP), paraoxonase 1 (PON1) and platelet‐activating factor acetylhydrolase (PAF‐AH) activities were evaluated. Results  Comparison between the proband and the control group revealed that the boy had significantly reduced cholesterol efflux (P  0·05) and increased CETP activity (P 
ISSN:0014-2972
1365-2362
DOI:10.1111/j.1365-2362.2004.01360.x