BLMH and APOE genes in Alzheimer Disease: A possible relation

Alzheimer disease (AD) is a progressive and irreversible neurodegenerative disorder that is characterized by cognitive decline, memory loss and confusion. The E4 allele of the apolipoprotein E gene (APOE) is associated with AD and it is the main genetic risk factor for disease. Although the exact physiological function is unknown, bleomycin hydrolase (BLMH) may also be associated with AD development, although previous immunohistochemical findings havebeen inconsistent. Therefore, the purpose ofthis study was to evaluate the genotypic and allele frequencies of theAPOEgene andBLMH1450 G> A polymorphism and assessBLMHexpression using PCR-RFLP and RT-qPCR analyses ofblood samples from patients with Alzheimer disease (AD), healthy elderly adults (EC) andhealthyyoung subjects(YC). BLMHexpression wassignificantly different among groups (p= 0.015) and there was substantial reduction with age and with AD. TheAPOEandBLMHgenotype frequency did not diverge from the Hardy-Weinberg equilibrium. There was a higher frequency of genotype 3/3 inall subjects (61.1%) and the AD group demonstrated a higher frequency of allele 4; however, differences ingenotype and allele distributions were statistically different among groups.