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Molecular analysis of three known and one novel LPL variants in patients with type I hyperlipoproteinemia.

Journal article
Authors Andrea Caddeo
Rosellina Margherita Mancina
Carlo Pirazzi
C. Russo
Kavitha Sasidharan
Joakim Sandstedt
S. Maurotti
T. Montalcini
A. Pujia
T. P. Leren
Stefano Romeo
Piero Pingitore
Published in Nutrition, metabolism, and cardiovascular diseases : NMCD
Volume 28
Pages 158-164
ISSN 1590-3729
Publication year 2018
Published at Institute of Medicine, Department of Molecular and Clinical Medicine
Pages 158-164
Language en
Subject categories Cardiovascular medicine


Type I hyperlipoproteinemia, also known as familial chylomicronemia syndrome (FCS), is a rare autosomal recessive disorder caused by variants in LPL, APOC2, APOA5, LMF1 or GPIHBP1 genes. The aim of this study was to identify novel variants in the LPL gene causing lipoprotein lipase deficiency and to understand the molecular mechanisms.A total of 3 individuals with severe hypertriglyceridemia and recurrent pancreatitis were selected from the Lipid Clinic at Sahlgrenska University Hospital and LPL was sequenced. In vitro experiments were performed in human embryonic kidney 293T/17 (HEK293T/17) cells transiently transfected with wild type or mutant LPL plasmids. Cell lysates and media were used to analyze LPL synthesis and secretion. Media were used to measure LPL activity. Patient 1 was compound heterozygous for three known variants: c.337T > C (W113R), c.644G > A (G215E) and c.1211T > G (M404R); patient 2 was heterozygous for the known variant c.658A > C (S220R) while patient 3 was homozygous for a novel variant in the exon 5 c.679G > T (V227F). All the LPL variants identified were loss-of-function variants and resulted in a substantial reduction in the secretion of LPL protein.We characterized at the molecular level three known and one novel LPL variants causing type I hyperlipoproteinemia showing that all these variants are pathogenic.

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