Ding Binrong, Zhang Xuewei, Wan Zhengqing, Tian Feng, Ling Jie, Tan Jieqiong, Peng Xiaoqing
Department of Geriatrics, The Third Xiangya Hospital, Central South University, Changsha 410000, China.
Health Management Center, Xiangya Hospital, Central South University, Changsha 410000, China.
Diagnostics (Basel). 2023 Jul 12;13(14):2351. doi: 10.3390/diagnostics13142351.
Noninvasive diagnosis of Alzheimer's disease (AD) is important for patients. Significant differences in the methylation of mitochondrial DNA (mtDNA) were found in AD brain tissue. Cell-free DNA (cfDNA) is a noninvasive and economical diagnostic tool. We aimed to characterize mtDNA methylation alterations in the plasma cfDNA of 31 AD patients and 26 age- and sex-matched cognitively normal control subjects. We found that the mtDNA methylation patterns differed between AD patients and control subjects. The mtDNA was predominantly hypomethylated in the plasma cfDNA of AD patients. The hypomethylation sites or regions were mainly located in mt-rRNA, mt-tRNA, and D-Loop regions. The hypomethylation of the D-Loop region in plasma cfDNA of AD patients was consistent with that in previous studies. This study presents evidence that hypomethylation in the non-protein coding region of mtDNA may contribute to the pathogenesis of AD and potential application for the diagnosis of AD.
阿尔茨海默病（AD）的无创诊断对患者至关重要。在AD脑组织中发现线粒体DNA（mtDNA）甲基化存在显著差异。游离DNA（cfDNA）是一种无创且经济的诊断工具。我们旨在对31例AD患者及26例年龄和性别匹配的认知正常对照者血浆cfDNA中的mtDNA甲基化改变进行特征分析。我们发现AD患者与对照者之间的mtDNA甲基化模式不同。AD患者血浆cfDNA中的mtDNA主要呈低甲基化状态。低甲基化位点或区域主要位于mt - rRNA、mt - tRNA和D - 环区域。AD患者血浆cfDNA中D - 环区域的低甲基化与先前研究一致。本研究提供了证据表明mtDNA非编码区的低甲基化可能参与AD的发病机制，并具有AD诊断的潜在应用价值。
