Biomarkers in blood for mitochondrial abnormality

2015 Fiscal Year Final Research Report

• Project/Area Number: 25253041
• Research Category: Grant-in-Aid for Scientific Research (A)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Laboratory medicine
• Research Institution: Kyushu University
• Principal Investigator: Kang Dongchon 九州大学, 医学(系)研究科(研究院), 教授 (80214716)
• Co-Investigator(Renkei-kenkyūsha): UCHIUMI TAKESHI 九州大学, 大学院医学研究院, 准教授 (80253798) ; MATSUSHIMA YUICI 九州大学, 大学院医学研究院, 助教 (20571342) ; YASUKAWA TAKEHIRO 九州大学, 大学院医学研究院, 助教 (90646720) ; SHINYA TAKAZAKI 九州大学, 大学院医学研究院, 助教 (90435149)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Keywords: ミトコンドリア病 / メタボローム / プロテオーム / ミトコンドリアDNA / 臨床検査

Outline of Final Research Achievements

(1)Basic research for mitochondria: We show that 7SDNA is involved in asymmetric mode of mitochondrial DNA replication, mitochondrial protease ClPXP regulates mitochondrial mRNA through LRPPRC1 degradation, and new pathways for mitophagy regulation.
(2) Analysis of mitochondrial diseases: The metabolome and proteome analysis systems with LC/MS have been set up. Then, we performed metabolome analysis of plasma of 20 patients with mitochondrial disease, MELAS. We identified several metabolites as new candidate biomarkers for MELAS. These metabolites were also found in a mouse mitochondrial disease model. A new gene causing mitochondrial disease of a human patient is identified through an extensive genomic DNA survey by next generation DNA sequencing.

Free Research Field

臨床検査医学