Document Detail


Familial hypobetalipoproteinemia caused by a mutation in the apolipoprotein B gene that results in a truncated species of apolipoprotein B (B-31). A unique mutation that helps to define the portion of the apolipoprotein B molecule required for the formation of buoyant, triglyceride-rich lipoproteins.
MedLine Citation:
PMID:  2312735     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Apolipoprotein B-100 has a crucial structural role in the formation of VLDL and LDL. Familial hypobetalipoproteinemia, a syndrome in which the concentration of LDL cholesterol in plasma is abnormally low, can be caused by mutations in the apo B gene that prevent the translation of a full-length apo B-100 molecule. Prior studies have revealed that truncated species of apo B [e.g., apo B-37 (1728 amino acids), apo B-46 (2057 amino acids)] can occasionally be identified in the plasma of subjects with familial hypobetalipoproteinemia; in each of these cases, the truncated apo B species has been a prominent protein component of VLDL. In this report, we describe a kindred with hypobetalipoproteinemia in which the plasma of four affected heterozygotes contained a unique truncated apo B species, apo B-31. Apolipoprotein B-31 is caused by the deletion of a single nucleotide in the apo B gene, and it is predicted to contain 1425 amino acids. Apolipoprotein B-31 is the shortest of the mutant apo B species to be identified in the plasma of a subject with hypobetalipoproteinemia. In contrast to longer truncated apo B species, apo B-31 was undetectable in the VLDL and the LDL; however, it was present in the HDL fraction and the lipoprotein-deficient fraction of plasma. The density distribution of apo B-31 in the plasma suggests the possibility that the amino-terminal 1425 amino acids of apo B-100 are sufficient to permit the formation and secretion of small, dense lipoproteins but are inadequate to support the formation of the more lipid-rich VLDL and LDL particles.
Authors:
S G Young; S T Hubl; R S Smith; S M Snyder; J F Terdiman
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  The Journal of clinical investigation     Volume:  85     ISSN:  0021-9738     ISO Abbreviation:  J. Clin. Invest.     Publication Date:  1990 Mar 
Date Detail:
Created Date:  1990-04-17     Completed Date:  1990-04-17     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  7802877     Medline TA:  J Clin Invest     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  933-42     Citation Subset:  AIM; IM    
Affiliation:
Gladstone Foundation Laboratories for Cardiovascular Disease, University of California, San Francisco 94140.
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MeSH Terms
Descriptor/Qualifier:
Adult
Aged
Apolipoproteins B / genetics*
Female
Heterozygote
Humans
Hypobetalipoproteinemias / genetics*
Hypolipoproteinemias / genetics*
Lipoproteins / biosynthesis*
Male
Middle Aged
Mutation
Triglycerides / biosynthesis*
Grant Support
ID/Acronym/Agency:
HL-01672/HL/NHLBI NIH HHS; HL-41633/HL/NHLBI NIH HHS
Chemical
Reg. No./Substance:
0/Apolipoproteins B; 0/Lipoproteins; 0/Triglycerides
Comments/Corrections

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