Rodrigues, Rute, Artieda, Marta, Tejedor, Diego, Martinez, Antonio, Konstantinova, Pavlina, Petry, Harald, Meyer, Christian, Corzo, Deyanira, Sundgreen, Claus, Klor, Hans U., Gouni-Berthold, Ioanna, Westphal, Sabine, Steinhagen-Thiessen, Elisabeth, Julius, Ulrich, Winkler, Karl, Stroes, Erik, Vogt, Anja, Hardt, Phillip, Prophet, Heinrich, Otte, Britta, Nordestgaard, Borge G., Deeb, Samir S. and Brunzell, John D. (2016). Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency. J. Clin. Lipidol., 10 (2). S. 394 - 410. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1876-4789

Full text not available from this repository.

Abstract

BACKGROUND: Lipoprotein lipase (LPL) deficiency is a serious lipid disorder of severe hypertriglyceridemia (SHTG) with chylomicronemia. A large number of variants in the LPL gene have been reported but their influence on LPL activity and SHTG has not been completely analyzed. Gaining insight into the deleterious effect of the mutations is clinically essential. METHODS: We used gene sequencing followed by in-vivo/in-vitro and in-silico tools for classification. We classified 125 rare LPL mutations in 33 subjects thought to have LPL deficiency and in 314 subjects selected for very SHTG. RESULTS: Of the 33 patients thought to have LPL deficiency, only 13 were homozygous or compound heterozygous for deleterious mutations in the LPL gene. Among the 314 very SHTG patients, 3 were compound heterozygous for pathogenic mutants. In a third group of 51,467 subjects, from a general population, carriers of common variants, Asp9Asn and Asn291Ser, were associated with mild increase in triglyceride levels (11%-35%). CONCLUSION: In total, 39% of patients clinically diagnosed as LPL deficient had 2 deleterious variants. Three patients selected for very SHTG had LPL deficiency. The deleterious mutations associated with LPL deficiency will assist in the diagnosis and selection of patients as candidates for the presently approved LPL gene therapy. (C) 2016 National Lipid Association. All rights reserved.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Rodrigues, RuteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Artieda, MartaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tejedor, DiegoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Martinez, AntonioUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Konstantinova, PavlinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Petry, HaraldUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Meyer, ChristianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Corzo, DeyaniraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sundgreen, ClausUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Klor, Hans U.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gouni-Berthold, IoannaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Westphal, SabineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Steinhagen-Thiessen, ElisabethUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Julius, UlrichUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Winkler, KarlUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stroes, ErikUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vogt, AnjaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hardt, PhillipUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Prophet, HeinrichUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Otte, BrittaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nordestgaard, Borge G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Deeb, Samir S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brunzell, John D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-280510
DOI: 10.1016/j.jacl.2015.12.015
Journal or Publication Title: J. Clin. Lipidol.
Volume: 10
Number: 2
Page Range: S. 394 - 410
Date: 2016
Publisher: ELSEVIER SCIENCE INC
Place of Publication: NEW YORK
ISSN: 1876-4789
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
LIPOPROTEIN-LIPASE GENE; CORONARY-ARTERY-DISEASE; AMINO-ACID SUBSTITUTION; C-TERMINAL DOMAIN; FAMILIAL COMBINED HYPERLIPIDEMIA; LINKED GLYCOSYLATION SITE; GENOME-WIDE ASSOCIATION; ISCHEMIC-HEART-DISEASE; IN-VITRO EXPRESSION; MISSENSE MUTATIONMultiple languages
Pharmacology & PharmacyMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/28051

Downloads

Downloads per month over past year

Altmetric

Export

Actions (login required)

View Item View Item