SHORT
COMMUNICATION
Familial Dysbetalipoproteinemia in Three Patients
with apoE 2*(Arg136®Cys)
Gene Variant
M. VRABLÍK, A. HOŘÍNEK, R. ČEŠKA, T. ŠTULC, T.
KVASNIČKA
Third Internal Department, First Faculty of Medicine, Charles
University, Prague, Czech Republic
Received December 12, 2002
Accepted April 7, 2003
Summary
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.
Key words
Apolipoprotein E • Rare variants • Familial
dysbetalipoproteinemia
Reprint requests
Michal Vrablik, MD, PhD., U nemocnice 1, 128 08 Prague 2, Czech
Republic, e-mail: michal.vrablik@seznam.cz
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