Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
1992-10-16
|
| pubmed:abstractText |
Familial hypobetalipoproteinemia, a syndrome associated with low plasma cholesterol levels, can be caused by apoB gene mutations. We identified a healthy 42-year-old man whose total plasma cholesterol level was 80 mg/dl. His plasma very low density lipoprotein (VLDL) contained a unique truncated apoB species, apoB-83, in addition to the normal B apolipoproteins, apoB-100 and apoB-48. Virtually no apoB-83 was detectable in his low density lipoprotein (LDL). From the subject's kindred, we identified nine other hypocholesterolemic subjects whose VLDL contained apoB-83. A tendency for cholelithiasis was noted in the apoB-83 heterozygotes, particularly in the older individuals. From the apparent size of apoB-83 on SDS-polyacrylamide gels and its reactivity with apoB-specific monoclonal antibodies, we estimated that it would contain approximately 3700-3800 amino acids. DNA sequencing of apoB genomic clones from two affected individuals revealed that apoB-83 was caused by a C----A transversion in exon 26 of the apoB gene (apoB cDNA nucleotide 11458). This mutation converts Ser-3750 (TCA) into a premature stop codon (TAA) and creates a unique MseI restriction endonuclease site. Thus, a single nucleotide transversion in the apoB gene results in a unique truncated apoB species, apoB-83, and the clinical syndrome of familial hypobetalipoproteinemia.
|
| pubmed:grant | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Apr
|
| pubmed:issn |
0022-2275
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
33
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
569-77
|
| pubmed:dateRevised |
2007-11-14
|
| pubmed:meshHeading |
pubmed-meshheading:1527480-Adolescent,
pubmed-meshheading:1527480-Adult,
pubmed-meshheading:1527480-Aged,
pubmed-meshheading:1527480-Amino Acid Sequence,
pubmed-meshheading:1527480-Apolipoproteins B,
pubmed-meshheading:1527480-Base Sequence,
pubmed-meshheading:1527480-Blotting, Western,
pubmed-meshheading:1527480-DNA,
pubmed-meshheading:1527480-DNA Mutational Analysis,
pubmed-meshheading:1527480-Electrophoresis, Polyacrylamide Gel,
pubmed-meshheading:1527480-Female,
pubmed-meshheading:1527480-Humans,
pubmed-meshheading:1527480-Hypobetalipoproteinemias,
pubmed-meshheading:1527480-Male,
pubmed-meshheading:1527480-Middle Aged,
pubmed-meshheading:1527480-Molecular Sequence Data,
pubmed-meshheading:1527480-Mutation,
pubmed-meshheading:1527480-Pedigree
|
| pubmed:year |
1992
|
| pubmed:articleTitle |
A truncated species of apolipoprotein B, B-83, associated with hypobetalipoproteinemia.
|
| pubmed:affiliation |
Gladstone Foundation Laboratories for Cardiovascular Research, University of California, San Francisco 94140-0608.
|
| pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Case Reports,
Research Support, Non-U.S. Gov't
|