1 Department of Geratology, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, People's Republic of China.
2 School of Medicine, University of Electronic Science and Technology of China, Chengdu, People's Republic of China.
J Geriatr Psychiatry Neurol. 2019 Jul;32(4):221-228. doi: 10.1177/0891988719835325. Epub 2019 Apr 4.
Alzheimer disease (AD) has been recognized as a progressive neurodegenerative disorder. This study aims to investigate the effects of estrogen receptor α (ERα) gene promoter methylation on the cognitive function and quality of life (QOL) of patients with AD.
A total of 132 patients with AD and 135 healthy individuals were recruited for this study. The DNA in the peripheral blood was extracted and treated with bisulfite; then methylation-specific polymerase chain reaction and reverse transcription quantitative polymerase chain reaction were performed to determine the methylation status of ERα and ERα messenger RNA (mRNA) expression, respectively. Mini-Mental State Examination (MMSE), activities of daily living (ADL), and Quality of Life-Alzheimer Disease scale were employed to evaluate the cognitive functions, ADL, and QOL of the participants.
The methylation group showed a decrease in ERα mRNA expression. The MMSE and ADL scores were indicative of a worse cognitive function in the methylation group. The ERα promoter methylated patients showed a higher rate of abnormal ADL score, while patients in the nonmethylation group enjoyed a better QOL.
The ERα promoter methylation is related to impaired cognitive function and QOL of patients with AD by inhibiting ERα mRNA expression and transcription.
阿尔茨海默病（AD）已被认为是一种进行性神经退行性疾病。本研究旨在探讨雌激素受体α（ERα）基因启动子甲基化对 AD 患者认知功能和生活质量（QOL）的影响。
本研究共纳入 132 例 AD 患者和 135 名健康对照者。提取外周血 DNA，用亚硫酸氢盐处理；然后进行甲基化特异性聚合酶链反应和逆转录定量聚合酶链反应，分别测定 ERα 基因的甲基化状态和 ERα 信使 RNA（mRNA）的表达。采用简易精神状态检查量表（MMSE）、日常生活活动量表（ADL）和阿尔茨海默病生活质量量表评估参与者的认知功能、ADL 和 QOL。
甲基化组 ERα mRNA 表达降低。MMSE 和 ADL 评分表明甲基化组认知功能较差。ERα 启动子甲基化患者的 ADL 评分异常率较高，而非甲基化组患者的 QOL 较好。
通过抑制 ERα mRNA 表达和转录，ERα 启动子甲基化与 AD 患者认知功能和 QOL 受损有关。
