Alterações genéticas na doença de Alzheimer

Abstract

With the increase of the life expectancy that is seen today in the entire planet, a larger number of individuals reaches an advanced age when the manifestation of neurodegenerative illnesses is more frequent. Among these, the Alzheimer's disease (AD) is the most common cause of dementia. The most substantial findings in the brains of patients suffering from AD are the senile plaques, the neurofibrillary tangles and an extensive neuronal loss. However, a general deficiency of predictive biological markers for AD impairs the correct diagnosis and the better understanding of the disease. Studies of molecular genetics allowed the identification of four genes that are consistently linked to AD: APP, apoE, PSEN1 and PSEN2. However, diverse studies demonstrate that other genes also play important roles in the development of AD, strengthening the notion that it is a polygenic illness. Modern large-scale techniques can now be applied in the study of AD, permitting the study of a vast population of genes or molecular alterations that can explain the origin of the illness, offering the basis for the understanding of the pathogenesis of AD and enabling the delineation of new and more efficient approaches to treat and to prevent the sprouting of the disease.