Analyses of new genes involved in human mitochondrial DNA abnormality

• 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
• Project Status: Completed (Fiscal Year 2014)
• Budget Amount: ¥5,460,000 (Direct Cost: ¥4,200,000、Indirect Cost: ¥1,260,000); Fiscal Year 2014: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000); Fiscal Year 2013: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000); Fiscal Year 2012: ¥2,600,000 (Direct Cost: ¥2,000,000、Indirect Cost: ¥600,000)
• 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 / ミトコンドリアDNA維持 / ミトコンドリアヌクレオイド / MTERF / 呼吸鎖複合体V / DNA複製フォーク / 転写 / 国際情報交換 / フィンランド

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.

Research Products

• [Journal Article] ミトコンドリアDNAの維持機構 (2015)
  • Author(s): 福應 温
  • Journal Title: 純真学園大学雑誌 Volume: 4 Pages: 55-63
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Screen for mitochondrial DNA copy number maintenance genes reveals essential role for ATP synthase. (2014)
  • Author(s): Fukuoh A, Cannino G, Gerards M, Buckley S, Kazancioglu S, Scialo F, Lihavainen E, Ribeiro A, Dufour E, Jacobs HT.
  • Journal Title: Mol Syst Biol. Volume: 21;10:734. Issue: 6 Pages: 3226-3237
  • DOI: 10.15252/msb.20145117
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Scavenger receptor CL-P1 mediates endocytosis by associating with AP-2μ2. (2014)
  • Author(s): Jang S, Ohtani K, Fukuoh A, Mori K, Yoshizaki T, Kitamoto N, Kim Y, Suzuki Y, Wakamiya N.
  • Journal Title: Biochim Biophys Acta. Volume: 1840(11) Issue: 11 Pages: 734-734
  • DOI: 10.1016/j.bbagen.2014.07.019
  • Peer Reviewed / Open Access
• [Journal Article] Mitochondrial transcription terminator family members coordinate mtDNA synthesis (2013)
  • Author(s): Joers P, Lewis SC, Fukuoh A, Parhiala M, Ellilä S, Holt IJ, Jacobs HT.
  • Journal Title: Pros Genetics Volume: 9 (9) Issue: 9 Pages: e1003800-e1003800
  • DOI: 10.1371/journal.pgen.1003800
  • Peer Reviewed
• [Journal Article] Gene and cytokine profile analysis of macrolide-resistant Mycoplasma pneumoniae infection in Fukuoka, Japan (2013)
  • Author(s): Matsuda K, Narita M, Sera N, Maeda E, Yoshitomi H, Ohya H, Araki Y, Kakuma T, Fukuoh A, Matsumoto K.
  • Journal Title: BMC Infectious Diseases Volume: 13 Issue: 1 Pages: 591-591
  • DOI: 10.1186/1471-2334-13-591
  • Peer Reviewed
• [Journal Article] Effects of DNA lesions on the transcription reaction of mitochondrial RNA polymerase: implications for bypass RNA synthesis on oxidative DNA lesions. (2013)
  • Author(s): Nakanishi N, Fukuoh A, Kang D, Iwai S, Kuraoka I.
  • Journal Title: Mutagenesis Volume: 28(1) Pages: 117-123
  • Peer Reviewed
• [Journal Article] A cytoplasmic suppressor of a nuclear mutation affecting mitochondrial functions in Drosophila. (2012)
  • Author(s): Chen S, Oliveira MT, Sanz A, Kemppainen E, Fukuoh A, Schlicht B, Kaguni LS, Jacobs HT.
  • Journal Title: Genetics Volume: 192(2) Pages: 483-493
  • Peer Reviewed
• [Presentation] ミトコンドリアゲノム安定性に関わる遺伝子のスクリーニング (2014)
  • Author(s): 福應 温
  • Organizer: 日本ミトコンドリア学会
  • Place of Presentation: 福岡
  • Year and Date: 2014-12-03 – 2014-12-05
• [Presentation] Genome-wide screen for mitochondrial DNA copy-number maintenance genes (2014)
  • Author(s): Atsushi Fukuoh
  • Organizer: 日本臨床検査医学会
  • Place of Presentation: 福岡
  • Year and Date: 2014-11-22 – 2014-11-25
• [Presentation] Screen for mitochondrial DNA copy-number maintenance genes (2014)
  • Author(s): Fukuoh A, Cannino G, Gerards M, Buckley S, Kazancioglu S, Scialo F, Lihavainen E, Ribeiro A, Dufour E, Jacobs HT.
  • Organizer: International Meeting for Mitochondrial Pathology
  • Place of Presentation: Tampere FINLAND
  • Year and Date: 2014-06-15 – 2014-06-19
• [Presentation] Screen for mitochondrial DNA copy-number maintenance genes (2014)
  • Author(s): Fukuoh A, Cannino G, Gerards M.et al.
  • Organizer: Euromit2014
  • Place of Presentation: Tampere Hall, Tampere, Finland
• [Presentation] Mitochondrial transcription terminator family members coordinate mtDNA synthesis (2013)
  • Author(s): Joers P, Lewis SC, Fukuoh A. et al.
  • Organizer: International Symposium on Mitochondria 2013
  • Place of Presentation: 東京 六本木ヒルズ
• [Presentation] ミトコンドリアＤＮＡの維持機構に関わる新規因子の探索 (2012)
  • Author(s): *Atsushi Fkukuoh, Ali R. Kasmati, Howard T. Jacobs, Dongchon Kang
  • Organizer: 日本遺伝学会
  • Place of Presentation: 福岡
• [Presentation] ゲノムワイドRNAiによるミトコンドリアゲノム維持機構に関与する新規因子の探索 (2012)
  • Author(s): *Atsushi Fkukuoh, Ali R. Kasmati, Howard T. Jacobs, Dongchon Kang
  • Organizer: 日本ミトコンドリア学会
  • Place of Presentation: 筑波
• [Presentation] ミトコンドリアDNA維持機構に関わる新規遺伝子探索
  • Author(s): 福應 温
  • Organizer: 第19回「性と生殖」公開シンポジウム「人間科学における生命研究の最前線」
  • Place of Presentation: 東京 早稲田大学 国際会議場
  • Invited