Related Experiment Videos
Rare variant of apolipoprotein E (Arg136-->Cys) in a subject with normal lipid values
J A Hubacek1, J Pitha, Z Skodová
1Institute for Clinical and Experimental Medicine, Laboratory of Atherosclerosis Research, Centre for Experimental Cardiovascular Research, Prague, Czech Republic. jaroslav.hubacek@medicon.cz
Abstract:
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.