Carmona, S; Kun-Rodrigues, C; Brás, J; Guerreiro, R; (2017) Revisiting the genetics of APOE. Sinapse , 17 (2) pp. 27-36.

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Abstract

Apolipoprotein E (APOE) is a lipid-transport protein expressed in almost all tissues, including the brain. In addition to lipid delivery, brain APOE also regulates amyloid beta clearance and aggregation. In humans, there are three main isoforms, APOE2, APOE3 and APOE4, with structural differences that influence protein function. APOE4 is the most important genetic risk factor for Alzheimer’s disease and Dementia with Lewy bodies. In this review, we will focus on the genetic variability of APOE and its association with different diseases (mainly neurodegenerative, psychiatric and lipid-related). Despite the increasing number of studies, the association of APOE genetic variants with other neurological conditions beyond Alzheimer’s disease and Dementia with Lewy bodies is still far from clear. We will also discuss the association of different structural and functional aspects of APOE with different diseases, particularly the amyloid beta-dependent and-independent mechanisms, such as tau-mediated neurodegeneration, associated with Alzheimer’s disease pathogenesis. As the most significant genetic risk factor for Alzheimer’s disease, APOE has a central role in the risk assessment of this disease. Consequently, a better understanding of the impact of common and rare APOE variants will not only contribute to a more accurate risk management of these patients, but it will also clarify the potential of APOE as a therapeutic target.

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