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ApoA-I mutations, L...
ApoA-I mutations, L202P and K131del, in HDL from heterozygotes with low HDL-C
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- Ljunggren, Stefan (author)
- Linköpings universitet,Avdelningen för inflammationsmedicin,Hälsouniversitetet
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- Levels, Johannes H M (author)
- Department of Vascular Medicine, Academic Medical Centre, Amsterdam, The Netherlands
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- Turkina, Maria V (author)
- Linköpings universitet,Avdelningen för cellbiologi,Hälsouniversitetet
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- Sundberg, Sofie (author)
- Linköpings universitet,Avdelningen för cellbiologi,Hälsouniversitetet
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- Bochem, Andrea E (author)
- Department of Vascular Medicine, Academic Medical Centre, Amsterdam, The Netherlands
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- Hovingh, Kees (author)
- Department of Vascular Medicine, Academic Medical Centre, Amsterdam, The Netherlands
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- Holleboom, Adriaan G (author)
- Department of Vascular Medicine, Academic Medical Centre, Amsterdam, The Netherlands
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- Lindahl, Mats (author)
- Linköpings universitet,Avdelningen för inflammationsmedicin,Hälsouniversitetet
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- Kuivenhoven, Jan Albert (author)
- University of Groningen, Groningen, The Netherlands
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- Karlsson, Helen (author)
- Östergötlands Läns Landsting,Linköpings universitet,Avdelningen för inflammationsmedicin,Hälsouniversitetet,Arbets- och miljömedicin
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(creator_code:org_t)
- 2014-02-12
- 2014
- English.
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In: PROTEOMICS - Clinical Applications. - : Wiley-Blackwell. - 1862-8346 .- 1862-8354. ; 8:3-4, s. 241-250
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Abstract
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- PURPOSE: Mutations in apolipoprotein A-I (apoA-I) may affect plasma high-density lipoprotein (HDL) cholesterol levels and the risk for cardiovascular disease but little is known about the presence and effects of circulating apoA-I variants. This study investigates whether the apoA-I mutations, apoA-I(L202P) and apoA-I(K131del) , are present on plasma HDL particles derived from heterozygote carriers and whether this is associated to changes in HDL protein composition.EXPERIMENTAL DESIGN: Plasma HDL of heterozygotes for either apoA-I(L202P) or apoA-I(K131del) and family controls was isolated using ultracentrifugation. HDL proteins were separated by 2DE and analyzed by MS.RESULTS: ApoA-I peptides containing apoA-I(L202P) or apoA-I(K131del) were identified in HDL from heterozygotes. The apoA-I(L202P) mutant peptide was less abundant than wild-type peptide while the apoA-I(K131del) mutant peptide was more abundant than wild-type peptide in the heterozygotes. Two-dimensional gel electrophoresis analyses indicated that, compared to controls, HDL in apoA-I(L202P) carriers contained less apoE and more zinc-α-2-glycoprotein while HDL from the apoA-I(K131del) heterozygotes contained more alpha-1-antitrypsin and transthyretin.CONCLUSIONS AND CLINICAL RELEVANCE: Both apoA-I(L202P) and apoA-I(K131del) were identified in HDL. In heterozygotes, these mutations have markedly differential effects on the concentration of wild-type apoA-I in the circulation, as well as the HDL proteome, both of which might affect the clinical phenotype encountered in the heterozygous carriers.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Cell- och molekylärbiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Cell and Molecular Biology (hsv//eng)
- NATURVETENSKAP -- Biologi -- Biokemi och molekylärbiologi (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Biochemistry and Molecular Biology (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Ljunggren, Stefa ...
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Levels, Johannes ...
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Turkina, Maria V
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Sundberg, Sofie
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Bochem, Andrea E
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Hovingh, Kees
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show more...
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Holleboom, Adria ...
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Lindahl, Mats
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Kuivenhoven, Jan ...
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Karlsson, Helen
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Cell and Molecul ...
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- NATURAL SCIENCES
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NATURAL SCIENCES
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and Biological Scien ...
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and Biochemistry and ...
- Articles in the publication
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PROTEOMICS - Cli ...
- By the university
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Linköping University