Heterozygous lipoprotein lipase deficiency due to a missense mutation as the cause of impaired triglyceride tolerance with multiple lipoprotein abnormalities.

G Miesenböck; B Hölzl; B Föger; E Brandstätter; B Paulweber; F Sandhofer; J R Patsch

doi:10.1172/JCI116222

Department of Medicine, University of Innsbruck, Austria.

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Department of Medicine, University of Innsbruck, Austria.

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Department of Medicine, University of Innsbruck, Austria.

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Department of Medicine, University of Innsbruck, Austria.

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Department of Medicine, University of Innsbruck, Austria.

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Department of Medicine, University of Innsbruck, Austria.

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Department of Medicine, University of Innsbruck, Austria.

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Published in Volume 91, Issue 2 on February 1, 1993
J Clin Invest. 1993;91(2):448–455. https://doi.org/10.1172/JCI116222.
© 1993 The American Society for Clinical Investigation

Published February 1, 1993 - Version history

In 16 members of two Austrian families affected by a missense mutation at codon 188 of the lipoprotein lipase (LPL) gene (8 heterozygous and 8 normal subjects), carrier status for the mutation as determined by DNA analysis was related to LPL activity in postheparin plasma, to the magnitude of postprandial lipemia, and to concentration, composition, and size of the major lipoprotein classes of postabsorptive plasma. Carriers exhibited clearly reduced LPL activity, normal fasting triglycerides, but pronounced postprandial lipemia. The carriers' impaired triglyceride tolerance, as evident in the postprandial state of challenge only, was associated with a fasting lipoprotein constellation characterized by (a) enrichment of HDL2 with triglycerides, (b) reduced HDL2-cholesterol, (c) enrichment of VLDL and intermediate density lipoprotein (IDL) with cholesteryl esters, (d) elevated IDL levels, and (e) small-sized LDL. Within any given individual, the degrees of expression of these characteristics were quantitatively and continuously related with each other as well as with the magnitude of lipemia and with LPL activity.

Version 1 (February 1, 1993): No description

Heterozygous lipoprotein lipase deficiency due to a missense mutation as the cause of impaired triglyceride tolerance with multiple lipoprotein abnormalities.

G Miesenböck, B Hölzl, B Föger, E Brandstätter, B Paulweber, F Sandhofer, and J R Patsch

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Heterozygous lipoprotein lipase deficiency due to a missense mutation as the cause of impaired triglyceride tolerance with multiple lipoprotein abnormalities.

G Miesenböck, B Hölzl, B Föger, E Brandstätter, B Paulweber, F Sandhofer, and J R Patsch

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