SHORT COMMUNICATION

Rare Variant of Apolipoprotein E (Arg136 ® Cys) in a Subject with Normal Lipid Values

J. A. HUBÁČEK, J. PIŤHA, Z. ŠKODOVÁ, R. POLEDNE

Institute for Clinical and Experimental Medicine, Laboratory of Atherosclerosis Research, Centre for Experimental Cardiovascular Research, Prague, Czech Republic

Received January 26, 2001
Accepted June 7, 2001

Summary
During the screening of apolipoprotein (apo) E gene polymorphism with PCR and subsequent restriction analysis, we have identified a female carrier with a mutant allele Arg136 ® Cys. This proband had normal lipid parameters and no history of coronary artery disease (CAD). We did not confirm the previously described connection between apo E Arg136 ® Cys mutation and elevated lipid levels. In the case of this mutation, other factors (environmental and/or genetic) are important for the development of lipid metabolism disorders.

Key words
Apolipoprotein E · Rare mutation · Lipid metabolism

Reprint requests
Jaroslav A. Hubáček, IKEM-LVA, Vídeňská 1958/9, 140 21 Prague 4, Czech Republic, fax: 0042 02 41721574, e-mail: jaroslav.hubacek@medicon.cz