Department of Translational Research & of New Surgical & Medical Technologies, University of Pisa, Via Roma 55, 56126, Pisa, Italy.
Current address: Unit of Genetics of Neurodegenerative & Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Epigenomics. 2020 Jun;12(12):1003-1012. doi: 10.2217/epi-2020-0041. Epub 2020 May 12.
Impaired methylation of the mitochondrial DNA and particularly in the regulatory displacement loop (D-loop) region, is increasingly observed in patients with neurodegenerative disorders. The present study aims to investigate if common polymorphisms of genes required for one-carbon metabolism ( and ) and DNA methylation reactions ( and ) influence D-loop methylation levels. D-loop methylation data were available from 133 late-onset Alzheimer's disease patients and 130 matched controls. Genotyping was performed with PCR-RFLP or high resolution melting techniques. Both 66A > G and -448A > G polymorphisms were significantly associated with D-loop methylation levels. This exploratory study suggests that and polymorphisms influence mitochondrial DNA methylation; further research is required to better address this issue.
线粒体 DNA 甲基化受损，尤其是在调控置换环 (D 环) 区域，在神经退行性疾病患者中越来越常见。本研究旨在探讨一碳代谢所需基因 (和) 和 DNA 甲基化反应 (和) 的常见多态性是否影响 D 环甲基化水平。133 例迟发性阿尔茨海默病患者和 130 例匹配对照的 D 环甲基化数据可用。基因分型采用 PCR-RFLP 或高分辨率熔解技术。66A > G 和 -448A > G 多态性与 D 环甲基化水平显著相关。这项探索性研究表明和多态性影响线粒体 DNA 甲基化；需要进一步研究以更好地解决这个问题。
