Doença de Alzheimer e sua relação com o alelo ε4 do gene da apolipoproteína E

Abstract

Alzheimer's Disease (AD) affects about 35.6 million people worldwide, with a prospect of increase in the coming years, as it is a disease with a strong genetic influence. The present study aimed to characterize the relationship between the presence of the ε4 allele of Apolipoprotein E (ApoE) and the development of late-onset AD. For this purpose, the description of the gene encoding ApoE and the ε2, ε3 and ε4 alleles, as well as the encoded protein and its isoforms, was performed. In addition, a literature review was carried out to analyze the correlations between ApoE and AD, seeking to relate factors such as gender, ethnicity, metabolic health and environment. The results showed that, although it is a rare allele in the population, the presence of ApoE ε4 increases the predisposition for the development of AD, and this greater predisposition may vary between genders and ethnicities. The presence of the ε4 allele produces an isoform of the ApoE protein that presents functional changes and that result in changes in metabolism associated with the pathophysiology of the disease, such as increased expression of the amyloid precursor protein, impaired degradation of β-amyloid peptides and increased formation of tangles neurofibrillary. Due to the established correlation, ApoE constitutes a potential therapeutic target for the treatment and control of the progression of AD.