Physiol. Res. 52: 647-650, 2003

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


© 2003 by the Institute of Physiology, Czech Academy of Sciences