engleski

Dopamine-beta-hydroxylase in Alzheimer's Disease

Alzheimer’ s disease (AD) is complex and polygenic disorder. Polymorphisms within the dopamine beta- hydroxylase (DBH) gene could be related to etiology of Alzheimer’ s disease (AD), given the well-documented changes in the catecholamine- mediated neurotransmission that occurs in this disorder. The aim of the present study was to investigate DBH -1021C/T gene polymorphism and plasma DBH activity between patients with AD and healthy controls. Methods: Plasma DBH activity and DBH -1021C/T polymorphism were determined in 155 patients (mean ± ; ; SD age 66.3 ± ; ; 11.2 years ; MMSE = 13.1 ± ; ; 8.1) with AD (NINCDS-ADRDA and DSM-IV-TR criteria) and 188 healthy controls (66.3 ± ; ; 11.2 years). The patients were subdivided into two subgroups according to the presence or absence of psychotic features and according to the early (F00.0)- or late (F00.1)-onset AD. Plasma DBH activity was determined by a photometric method and DBH genotype by standard RFLP technique. Among AD patients 62%, 31% and 6.5% were carrying CC, CT and TT genotype, while 61.5%, 33, 5% and 5.3% of healthy controls were carrying CC, CT and TT genotype, respectively. DBH genotype (Chi-square=0.38 ; df=2 ; p=0.825) and allele (Chi-square=0.038 ; df=1 ; p=0.90) frequencies were similarly distributed between healthy controls and patients with AD, between patients with or without psychotic features (Chi- square=1.90 ; df=2 ; p=0.386) and between patients with early- and late-onset AD (Chi- square=3.07 ; df=2 ; p=0.215). A significantly (p<0.001) lower plasma DBH activity was found in AD patients carrying CC or CT genotype as compared to healthy controls carrying the corresponding genotypes. The results suggest that genotype- controlled measurement of plasma DBH activity might be used as a potential biological marker in AD.

plasma dopamine beta-hydroxylase (DBH) activity; Alzheimer’ s disease; DBH -1021C/T gene polymorphism

Indexed / Abstracted in: Neuroscience Citation Index ; EMBASE / Excerpta Medica