Familial dysbetalipoproteinemia in three patients with apoE 2*(Arg136-->Cys) gene variant
Language English Country Czech Republic Media print
Document type Case Reports, Journal Article, Research Support, Non-U.S. Gov't
PubMed
14535841
Knihovny.cz E-resources
- MeSH
- Apolipoprotein E2 MeSH
- Apolipoproteins E genetics MeSH
- DNA chemistry genetics MeSH
- Electrophoresis, Agar Gel MeSH
- Phenotype MeSH
- Genotype MeSH
- Heterozygote MeSH
- Homozygote MeSH
- Hyperlipoproteinemia Type III blood genetics MeSH
- Middle Aged MeSH
- Humans MeSH
- Lipids blood MeSH
- Lipoproteins blood MeSH
- Mutation MeSH
- DNA Mutational Analysis MeSH
- Polymerase Chain Reaction MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Amino Acid Substitution * MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
- Names of Substances
- Apolipoprotein E2 MeSH
- Apolipoproteins E MeSH
- DNA MeSH
- Lipids MeSH
- Lipoproteins MeSH
Apolipoprotein E (apoE) is a polymorphic protein which occurs in three common isoforms and more than 25 rare variants. Some of the rare apoE variants have been implicated in a dominant mode of inheritance of familial dysbetalipoproteinemia (FD). We have identified three unrelated apoE 2*(Arg136-->Cys) carriers with FD. This finding supports the notion that although apoE 2*(Arg136-->Cys) mutation is perhaps not sufficient to cause FD itself, the presence of other genetic and/or environmental factors can lead to the phenotypic expression of the disease in the carriers.
