| Marked HDL deficiency and premature coronary heart disease. | |
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MedLine Citation:
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PMID: 20616715 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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PURPOSE OF REVIEW: Our purpose is to review recent publications in the area of marked human HDL deficiency, HDL particles, coronary heart disease (CHD), amyloidosis, the immune response, and kidney disease. RECENT FINDINGS: Lack of detectable plasma apolipoprotein (apo) A-I can be due to DNA deletions, rearrangements, or nonsense or frameshift mutations within the APOA1 gene resulting in a lack of apoA-I secretion. Such patients have marked HDL deficiency, normal levels of triglycerides and LDL cholesterol, and can have xanthomas and premature CHD. ApoA-I variants with amino acid substitutions, especially in the region of amino acid residues 50-93 and 170-178, have been associated with amyloidosis. Patients with homozygous Tangier disease have defective cellular cholesterol efflux due to mutations in the adenosine triphosphate-binding cassette transporter A1, detectable plasma apoA-I levels and prebeta-1 HDL in their plasma. They have decreased LDL cholesterol levels and can develop neuropathy and premature CHD. Patients with lecithin: cholesterol acyltransferase deficiency have both prebeta-1 and alpha-4 HDL present in their plasma and develop corneal opacities, anemia, proteinuria, and kidney failure. SUMMARY: Patients with marked HDL deficiency can have great differences in their clinical phenotype depending on the underlying defect. |
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Authors:
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Ernst J Schaefer; Raul D Santos; Bela F Asztalos |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.; Review |
Journal Detail:
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Title: Current opinion in lipidology Volume: 21 ISSN: 1473-6535 ISO Abbreviation: Curr. Opin. Lipidol. Publication Date: 2010 Aug |
Date Detail:
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Created Date: 2010-07-13 Completed Date: 2010-10-08 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9010000 Medline TA: Curr Opin Lipidol Country: England |
Other Details:
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Languages: eng Pagination: 289-97 Citation Subset: IM |
Affiliation:
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Jean Mayer USDA Human Nutrition Research Center on Aging at Tufts University, Tufts University School of Medicine, Boston, Massachusetts 02111, USA. ernst.schaefer@tufts.edu |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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ATP-Binding Cassette Transporters
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metabolism Amyloidosis / genetics, metabolism Apolipoprotein A-I / deficiency, genetics Base Sequence Coronary Disease / complications, genetics, immunology, metabolism* Humans Lipoproteins, HDL / deficiency* Phosphatidylcholine-Sterol O-Acyltransferase / metabolism |
| Grant Support | |
ID/Acronym/Agency:
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HL 7475/HL/NHLBI NIH HHS; HL-60935/HL/NHLBI NIH HHS; P050HL083813/HL/NHLBI NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/ATP-Binding Cassette Transporters; 0/Apolipoprotein A-I; 0/Lipoproteins, HDL; EC 2.3.1.43/Phosphatidylcholine-Sterol O-Acyltransferase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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