Study of differential diagnosis for dilated cardiomyopathy and dilated phase of hypertrophic cardiomyopathy

2018 Fiscal Year Final Research Report

• Project/Area Number: 17K16034
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Cardiovascular medicine
• Research Institution: National Cardiovascular Center Research Institute
• Principal Investigator: NIshigori Mitsuhiro 国立研究開発法人国立循環器病研究センター, その他, 特任研究員 (00633645)
• Project Period (FY): 2017-04-01 – 2019-03-31
• Keywords: エピゲノム / 鑑別診断 / 拡張型心筋症 / 拡張相肥大型心筋症

Outline of Final Research Achievements

Since dilated cardiomyopathy (DCM) and dilated phase of hypertrophic　cardiomyopathy (dHCM) show similar symptoms of severe heart failure, the risk of sudden death is higher in dHCM. Thus the differential diagnosis of the two diseases is essential. In this study, to clearly distinguish DCM and dHCM by biomolecules and establish novel biomarkers that can be used for definitive diagnosis, biomarker candidate genes for differential diagnosis of DCM / dHCM found from epigenome analysis of left ventricular tissue were focused and the methylation rate of the CpG sites were quantified with high accuracy and high sensitivity.

Free Research Field

オミックス解析

Academic Significance and Societal Importance of the Research Achievements

本研究のマーカー遺伝子について、心筋生検時の微量の残余組織等から抽出した核酸試料を用いることで、病歴が不明の場合でも、DCMとdHCMの確定診断の客観事実に基づき行うことが可能となる。DNAメチル化サイトを5箇所程度の測定であれば、遺伝子診断などと比較して低コストであり、この診断法を実用化できれば、社会的意義は大きい。