engleski

Apolipoprotein E polymorphism in Alzheimer's disease and vascular dementia

Aim. Apolipoprotein E (ApoE) gene is found to be polymorphic with three common alleles (e2, e3, e4) coding for three isoforms (E2, E3, E4) differing from each other by a single amino acid substitution at positions 112 and 158, thus causing different binding affinity of ApoE containing lipoproteins for the corresponding receptors. The common apoE isoforms E2 (Arg158-Cys) and E4 (Arg112-Cys) are found to be responsible for the variations in plasma cholesterol and triglyceride concentrations and hyperlipidemic conditions. ApoE genotypes determine the concentration of plasma ApoE. The aim of this study of ApoE genotypes was to assess their role in the pathogenesis of vascular and Alzheimer's dementia. Methods used in the study include determination of serum lipids and lipoproteins by standard methods, plasma ApoE concentration by immunoturbidimetric method and ApoE genotyping by polymerase chain reaction isotyping. Altogether in the study patients and control subjects were analysed. Results of the study of epidemiological and clinical significance of ApoE genotyping in diseased patients groups presented in comparison with healthy population and corresponding control groups revealed E4/4 genotype to be associated with Alzheimer's disease, E3/4 genotype with vascular dementia, E2/2 genotype with a reduced risk of Alzheimer's dementia but positively linked to longevity.

ApoE gene; polymorphism; Alzheimer's disease; vascular dementia

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