Familial dysbetalipoproteinemia in three patients with apoE 2*(Arg136-->Cys) gene variant.
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.
Vrablík
M
M
Third Internal Department, First Faculty of Medicine, Charles University, U nemocnice 1, 128 08 Prague 2, Czech Republic. michal.vrablik@seznam.cz
Horínek
A
A
Ceska
R
R
Stulc
T
T
Kvasnicka
T
T
D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution; D053329:Apolipoprotein E2; D001057:Apolipoproteins E / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D004587:Electrophoresis, Agar Gel; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006952:Hyperlipoproteinemia Type III / Q000097:blood / Q000235:genetics*; D008055:Lipids / Q000097:blood; D008074:Lipoproteins / Q000097:blood; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction
D053329:Apolipoprotein E2; D001057:Apolipoproteins E; D008055:Lipids; D008074:Lipoproteins; D004247:DNA