BLMH and APOE genes in Alzheimer Disease: A possible relation

Abstract

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 have been inconsistent. Therefore, the purpose of this study was to evaluate the genotypic and allele frequencies of the APOE gene and BLMH 1450 G > A polymorphism and assess BLMH expression using PCR-RFLP and RT-qPCR analyses of blood samples from patients with Alzheimer disease (AD), healthy elderly adults (EC) and healthy young subjects (YC). BLMH expression was significantly different among groups (p = 0.015) and there was substantial reduction with age and with AD. The APOE and BLMH genotype frequency did not diverge from the Hardy-Weinberg equilibrium. There was a higher frequency of genotype 3/3 in all subjects (61.1%) and the AD group demonstrated a higher frequency of allele 4; however, differences in genotype and allele distributions were statistically different among groups.

Frequency distribution of BLMH, XPO5 and HFE gene polymorphisms in the South Indian population and their association with Hodgkin Lymphoma

“…The G/G genotype of BLMH was not a significant risk factor in the Tunisian and Brazilian populations. 14,15 BLMH inactivates bleomycin, and the polymorphism in the BLMH gene alters aminopeptidase activity, which leads to increased BLM sensitivity and may increase the risk of BPT. In 2005, the Nuver et al 6 study did not find any association between the BLMH gene polymorphism and the development of BPT.…”

“…The G/G genotype of BLMH was not a significant risk factor in the Tunisian and Brazilian populations. 14,15…”