Connections between apolipoprotein E genotypes and the development of cardiovascular diseases

Elevated plasma lipid level is one of the main risk factors for cardiovascular diseases, which are considered to be pimary causes of death. Apolipoprotein E plays a part in the lipid transport in the blood, thus polimophisms of that affect the lipid composition of the plasma. The three most common alleles of apolipoprotein E are e2, e3, e4. Out of the two non-wild type alleles, the e2 and e4, the latter was shown to play a role in the development of cardiovascular diseases and Alzheimer’s disease. Some studies mention the e2/e2 homozygote genotype as one of the causes of hyperlipoproteinemia type III. Besides lipid metabolism, apolipoprotein E also influences the manifestation of cardiovascular diseases through other biochemical pathways, therefore it is essential to explore the molecular background of these metabolic pathways. Orv. Hetil., 2012, 153, 2070–2076.

A competitive reverse transcription–PCR to study apolipoprotein ε gene expression

We developed a rapid and simple competitive reverse transcription-polymerase chain reaction for the quantification of apoε mRNA in human monocyte-derived macrophages. The method was applied, and its reliability was shown in patients with the familial lipoprotein disorder, type III hyperlipoproteinemia. Type III hyperlipoproteinemic patients express markedly higher concentrations of apoε mRNA when compared with healthy controls. Patients with this disease are usually (>90%) homozygous for a receptor binding-defective isoform of apolipoprotein apo E (apo E2). The higher expression of apoε mRNA in the patients could, therefore, be a physiological mechanism to compensate for functionally defective apo E. The developed procedure might be valuable in assessment of apoε gene expression in human disease.