P‐024: The pattern and severity of FDG pet abnormalities in Alzheimer's disease and amnestic mild cognitive impairment: Preliminary findings from the Alzheimer's disease neuroimaging initiative

Abstract

is defined by neuritic plaques and neurofibrillary tangles accumulation that lead to the loss of synapse in the neurons. Degeneration is associated with an increase of cholesterol levels in the plasmatic membrane of the neurons. The cholesterol excess can be eliminated of the cell by several routes: cholesterol can be esterified and stored within the cell as cholesterol esters or it can be oxidized and turned into oxyesterols. The oxyesterols are more soluble than cholesterol and are excreted of the cell associated with lipoproteins particles. Several authors have reported an increased risk of Alzheimer's disease and intronic variants in CYP46A1. In Mexico, molecular studies do not exist that allow to identify the risk factors related to Azheimer's disease. Objective of this work is determine if the presence of two intronic polymorphism (rs754203 and rs4900442) in CYP46A1 is related to Alzheimer disease in Mexican patients and their association with ApoE4 genetic variant. Methods: Genotyping of SNPs was performed by using qPCR, in cinically diagnosed patients with AD and controls, in a Mexican population and its association with ApoE4. The diagnosis included medical history, neurological and psychiatric examinations, screening laboratory tests and electroencephalography. Results: Genotype distributions in case and control groups for the rs754203 or rs4900442 markers shows an association with Alzheimer's disease patients, but does not exist with relation to ApoE4. Conclusions: We propose that the CYP46 intron 2 polymorphism could confer increased susceptibility for AD in our patient. Nevertheless it is important to identify the ApoE4 distribution and then to define the role of this marker as risk factor in Alzheimer's disease in Mexican population.