Balkan Journal of Medical Genetics

APOE4 STATUS AND COGNITIVE FUNCTION IN MIDDLE-AGED AND ELDERLY PEOPLE
Pavel N.A.1, Paun M.R.2, Matei P.V.1,2, Dutu I.1, Tudose C.1,2
*Corresponding Author: Valentin P. Matei, Associate Proffesor, MD, PhD. 2nd Ward of “Prof. Dr. Alexandru Obregia” Hospital, Berceni Street no 10, Bucharest, Romania. E-mail: valipmatei@yahoo.com
page: 6

INTRODUCTION

The APOE gene encodes one of the major protein families involved in lipid metabolism, named apolipoproteins [1]. It is situated on the long arm of chromosome 19, and is most frequently found in isoforms resulting from permutations of three alleles: ε2, ε3 and ε4 [1], their relative frequency in the Caucasian population being approximately 8%, 74% and 14%, respectively [2]. The presence of the ε4 allele, both in hetero- or homozygote form, is one of the most well-known risk factors for Alzheimer disease (AD), and accounts for about 20- 25% of heritable susceptibility [3]. In individuals suffering from AD, its presence is associated with increased amyloid plaque density [4] as well as the accentuation of a number of non-specific neurodegenerative processes [5], which translate into a particular disease phenotype characterized by greater atrophy of the parietal and temporal lobes and more severe memory deficits compared to ApoE4 negative AD patients [6]. The detrimental effects of ApoE4 are not limited to increased risk and severity of AD; but also extend to a significant degree to clinically unimpaired carriers. Morphologically, these individuals exhibit lower grey matter volumes in several brain regions frequently affected in AD patients, most notably the hippocampus, frontal cortex and thalamus [7]. ApoE4 is also associated with neuronal hypometabolism in the cingulate cortex [8], as well as increased permeability of the blood-brain barrier in the hippocampus and temporal lobe [9]. Functionally, ApoE4 positive individuals appear to perform worse in memory and attention related tasks as early as middle age [10]. The aims of our study are to examine the effect of ApoE4 status on cognitive performance in a cohort of clinically unimpaired elderly patients, divided into an ApoE4 positive and an ApoE4 negative group after genotyping. The groups are matched by age, socioeconomic status, educational attainment, and psychiatric and somatic illnesses. In doing so, we hope to better understand the value of these parameters, as predictors for neurodegenerative disorders and to better understand the impact of ApoE4 prior to the onset of these disorders.

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