Expressão do gene Blmh e caracterização dos polimorfismos dos genes Blmh e apolipoproteína e em pacientes com a Doença de Alzheimer

• Main Author: Ximenes, João Paulo Bianchi
• Publication Date: 2013
• Format: Master thesis
• Language: por
• Source: Biblioteca Digital de Teses e Dissertações da USC
• Download full: http://tede2.usc.br:8080/jspui/handle/tede/260
• topic: DOENÇA DE ALZHEIMER; BLMH; APOE; EXPRESSÃO GÊNICA; POLIMORFISMO; ALZHEIMER DISEASE; BLMH; APOE; EXPRESSION GENE; POLYMORPHISM; CIENCIAS DA SAUDE::ODONTOLOGIA

Alzheimer disease (AD) is defined as a progressive and irreversible neurodegenerative disorder characterized by cognitive decline, memory loss and confusion. The E4 allele of the apolipoprotein E gene (APOE) has been associated with AD and it is considered the main genetic risk factor for disease, and the BLMH gene has been mentioned as a possible gene involved in AD. The aim of this study was to evaluate the genotypic and allele frequencies of the APOE gene and BLMH 1450 G>A polymorphism and BLMH expression through, respectively, the PCR - RFLP and RT-qPCR in blood samples from three groups: patients with Alzheimer disease (AD), elderly control (EC) and young control (YC); correlating the findings concerning APOE and BLMH genes among all groups. The results led to a statistically significant difference in BLMH expression compared the three groups (p = 0.015) as there was a reduction of the expression as aging. The APOE and BLMH genotype frequency were in Hardy -Weinberg equilibrium (p = NS) with a higher frequency of genotype 3/3 in three groups (61.1%) and AD group demonstrated a higher frequency of allele 4; however, these frequencies were not statistically significant. In conclusion, we found a statistics significance about BLMH expression related to its decrease when we compared all groups. These findings could corroborate with others studies and help to determine new results about AD