CASE REPORT OF A PATIENT WITH RARE P.ARG136CYS (APOE2*) MUTATION IN APOLIPOPROTEIN E GENE

Abstract

Apolipoprotein E (apoE) is a polymorphic glycoprotein associated with plasma lipoproteins and plays an essential role in the metabolism and clearance of plasma lipids. ApoE can represent the major genetic risk factor in development of premature atherosclerosis, coronary heart disease and late-onset familial and sporadic Alzheimer’s Disease (AD). We present a case report of a 51-year old male with suspected AD. After the routine biochemical tests, we performed a Lipoprint System analysis for evaluation of lipoprotein changes and subsequently the molecular-genetic analysis (PCR-RFLP, sequence analysis) of APOE gene. Moderate changes were seen in plasma lipid parameters-an increase of triacylglycerols and a drop of High-Density Lipoproteins (HDL). Lipoprint System assay revealed a shift of lipoproteins to less dense fractions mainly to Very-Low-Density Lipoproteins (VLDL). The presence of a rare APOE mutation p.Arg136Cys has been detected in patient with severe short-term memory problems and symptoms of dementia. Our case report may open a discussion on possible linking of this rare genotype to neurological pathology and justifying the impact of apoE genotype on lipoprotein metabolism and AD.