Analyses of new genes involved in human mitochondrial DNA abnormality

2014 Fiscal Year Final Research Report

• Project/Area Number: 24590395
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pathological medical chemistry
• Research Institution: Junshin Gakuen University
• Principal Investigator: FUKUOH Atsushi 純真学園大学, 保健医療学部, 准教授 (80363365)
• Research Collaborator: JACOBS Howard T. タンペレ大学, ヘルシンキ大学, 教授
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: ミトコンドリアDNA / DNA維持機構 / ATP合成酵素 / 転写終結因子 / 複製フォークバリア / エキソソーム / RNA分解

Outline of Final Research Achievements

The faithful replication, repair and transmission of mitochondrial DNA (mtDNA) are essential for life. The machinery of mtDNA maintenance is only partially characterized despite the wide interest due to its involvement in disease, ranging from neurodegenerative disorders such as Parkinson’s disease through to susceptibility to cardiac ischemia, and perhaps aging. To identify novel components of this machinery, a genome-wide RNAi screen was previously performed, assaying for loss of fluorescence of mtDNA nucleoids stained with the DNA-intercalating agent PicoGreen. In this study, we performed a series of functional analyses on some of the screen positive genes and revealed some of novel pathway that might be involved in human mitochondrial DNA maintenance.

Free Research Field

ミトコンドリア病の分子生物学