Biomarker identification of neuropsychiatric disorders by epigenetic changes in the TREM2 gene

2020 Fiscal Year Final Research Report

• Project/Area Number: 19K17113
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 52030:Psychiatry-related
• Research Institution: Ehime University
• Principal Investigator: ozaki yuki 愛媛大学, 医学系研究科, 研究員 (40769527)
• Project Period (FY): 2019-04-01 – 2021-03-31
• Keywords: エピジェネティクス

Outline of Final Research Achievements

The aim was to clarify whether DRD2 methylation changes in leukocytes of Parkinson’s disease (PD) or dementia with Lewy bodies (DLB) patients are seen and can be used to discriminate between them. Methylation rates were examined in
37 PD patients and 37 age- and sex-matched healthy controls, 23 DLB patients and 23 age- and sex-matched healthy controls. As a result, PD patients tended to have lower DRD2 methylation rates at all CpG sites than healthy subjects. On the other hand, DLB patients tended to have higher DRD2 methylation rates at 6 CpG sites than healthy subjects. Discriminant analysis between DLB and PD using 7 CpG sites demonstrated sensitivity and specificity of 83.8% and 90.9%, respectively.
These results may be an important step in understanding epigenetic mechanisms underlying DLB and PD pathogenesis and providing a novel biomarker for discriminating between them.

Free Research Field

分子生化学

Academic Significance and Societal Importance of the Research Achievements

パーキンソン病（PD）とレビー小体型認知症（DLB）は、臨床的、病理学的、遺伝的、生化学的に共通点が多い。我々はPD患者（37名）とDLB患者（23名）、性、年齢の一致した健常者の末梢白血球中のDRD2遺伝子のプロモーター領域、計7つのCpGサイトのメチル化率を測定し、両疾患の鑑別診断や治療のバイオマーカーになり得るかを検討した。
結果、7つのCpGサイトにおけるDRD2のDNAメチル化率を使用したPDとDLBの判別分析により、感度と特異度はそれぞれ83.8％と90.9％であり、DRD2のメチル化率がPDとDLBの診断のバイオマーカーとなり得ることが示唆された。