ELIDA P. BENQUIQUE OJOPI, ALEXANDRE BRUNO BERTONCINI, EMMANUEL DIAS NETO
Laboratório de Neurociências (LIM-27), Instituto de Psiquiatria, Faculdade de Medicina, Universidade de São Paulo.
Abstract:
It is known that polymorphisms in the gene of the apolipoprotein E (apoE) are important risk factors in the development of the Alzheimer’s disease (AD). The human gene apoE, which is mapped in the long arm of chromosome 19 (19q13.2), codes for a glycoprotein with 317 amino acids, which plays a basic role for the catabolism of triglyceride-rich components in the human body. In our species the apoE gene appears in the form of three main alleles, produced from two alterations in the DNA sequence, called ε2, ε3 and ε4. The identification of the variant ε4 of gene apoE as the most relevant genetic marker for the risk for late-onset AD suggests that cholesterol may have a direct involvement in the pathogenesis of this disease. However, apoE ε4 is not necessary nor enough to cause Alzheimer’s disease. It only increases the risk of an individual to develop the illness, indicating that other environmental/genetic factors shoud play important roles in the development of the disease.
Keywords:Alzheimer’ disease, APOE, Apolipoproteína E