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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 (författare)
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Levels, Johannes H M (författare)
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Turkina, Maria V (författare)
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Sundberg, Sofie (författare)
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Bochem, Andrea E (författare)
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Hovingh, Kees (författare)
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Holleboom, Adriaan G (författare)
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Lindahl, Mats (författare)
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Kuivenhoven, Jan Albert (författare)
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Karlsson, Helen (författare)
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- Wiley-Blackwell 2014
- 2014
- Engelska.
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Ingår i: PROTEOMICS - Clinical Applications. - 1862-8346. ; 8:3-4, 241-250
Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- Medical and Health Sciences (hsv)
- Basic Medicine (hsv)
- Cell and Molecular Biology (hsv)
- Medicin och hälsovetenskap (hsv)
- Medicinska grundvetenskaper (hsv)
- Cell- och molekylärbiologi (hsv)
- Natural Sciences (hsv)
- Biological Sciences (hsv)
- Biochemistry and Molecular Biology (hsv)
- Naturvetenskap (hsv)
- Biologiska vetenskaper (hsv)
- Biokemi och molekylärbiologi (hsv)
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Till lärosätets databas
- Av författaren/redakt...
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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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visa fler...
-
Holleboom, Adria ...
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Lindahl, Mats
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Kuivenhoven, Jan ...
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Karlsson, Helen
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visa färre...
- Av lärosätet
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