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Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia.
Open accessAbstract
We investigated a family from northern Sweden in which three of four siblings have congenital chylomicronemia. LPL activity and mass in pre- and postheparin plasma were low, and LPL release into plasma after heparin injection was delayed. LPL activity and mass in adipose tissue biopsies appeared normal. [(35)S]Methionine incorporation studies on adipose tissue showed that newly synthesized LPL was normal in size and normally glycosylated. Breast milk from the affected female subjects contained normal to elevated LPL mass and activity levels. The milk had a lower than normal milk lipid content, and the fatty acid composition was compatible with the milk lipids being derived from de novo lipogenesis, rather than from the plasma lipoproteins. Given the delayed release of LPL into the plasma after heparin, we suspected that the chylomicronemia might be caused by mutations in GPIHBP1. Indeed, all three affected siblings were compound heterozygotes for missense mutations involving highly conserved cysteines in the Ly6 domain of GPIHBP1 (C65S and C68G). The mutant GPIHBP1 proteins reached the surface of transfected Chinese hamster ovary cells but were defective in their ability to bind LPL (as judged by both cell-based and cell-free LPL binding assays). Thus, the conserved cysteines in the Ly6 domain are crucial for GPIHBP1 function.
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“Defective lipolysis occurs with genetic defects in LpL; defects in apoC-II; defective association of LpL with the vascular wall due to antibodies to heparin or defects in glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1, an LpL-binding protein (75, 76); or defective intracellular LpL processing due to mutated lipase maturation factor 1 (77).”
From Evaluation and Treatment of Hypertriglyceridemia: An Endocrine Society Clinical Practice Guideline (2012) · cites this paper as [76]
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“Many of the mutations involve conserved cysteines within the Ly6 domain (Franssen et al. 2010; Olivecrona et al. 2010; Charriere et al. 2011; GENES & DEVELOPMENT 469 Coca-Prieto et al. 2011).”
BackgroundSelf-citation
Metadata
- Authors
- Olivecrona, G., Ehrenborg, E., Semb, H., Makoveichuk, E., Lindberg, A., Hayden, M. R., Gin, P., Davies, B. S. J., Weinstein, M. M., Fong, L. G., Beigneux, A. P., Young, S. G., Olivecrona, T., & Hernell, O.
- Affiliations
- Umeå University (SE)
- University of British Columbia (CA)
- University of California, Los Angeles (US)
- Corresponding author
- Olivecrona, Gunilla
- ORCID
- Venue
- Journal of Lipid Research
- Publisher
- Elsevier BV
- Published
- 2010-06
- Volume
- 51
- Issue
- 6
- Pages
- 1535-1545
- ISSN
- 0022-2275 (ISSN-L)
- PMC
- PMC3035517
- OpenAlex
- W2168084616
- Cited by
- 118
- References
- 49
- Citations by year
- 2026: 2 · 2025: 2 · 2024: 4 · 2023: 4 · 2022: 6 · 2021: 2 · 2020: 3 · 2019: 4 · 2018: 9 · 2017: 8 · 2016: 8 · 2015: 9 · 2014: 9 · 2013: 7 · 2012: 9
- FWCI
- 8.66
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Journal of Lipid Research (publishedVersion, cc-by)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- American Heart Association
- Heart and Stroke Foundation of Canada
- University of Washington
- Heart and Stroke Foundation of British Columbia and Yukon
- Kempe Foundation
- Hjärt-Lungfonden
- Karolinska Institutet
- Riksbankens Jubileumsfond
- Kempestiftelserna
- National Institutes of Health (HL094732, HL090553)
- Medical Research Council
- National Heart, Lung, and Blood Institute (P01HL090553, R01HL087228, R01HL094732)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Health Sciences › Medicine › Surgery › Lymphatic Disorders and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Lipid metabolism and biosynthesis
- Keywords
- familial chylomicronemia, GPIHBP1, conserved cysteines, compound heterozygosity, heparin, breast milk, de novo lipogenesis, adipose tissue, missense mutations
- MeSH terms
- Adipose Tissue, Adolescent, Adult, Alleles, Animals, Base Sequence, Carrier Proteins, Child, Preschool, Chylomicrons, Cricetulus, Cysteine, Female, Gene Expression Regulation, Cricetinae, Heparin, Heterozygote, Humans, Lipoprotein Lipase, Male, Middle Aged, Milk, Human, Mutation, Transfection, CHO Cells, Conserved Sequence, Protein Structure, Tertiary, Receptors, Lipoprotein, Mutation, Missense, Siblings, Lipid Metabolism Disorders, Apolipoprotein C-II
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