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Mitochondrial DNA disease and its diagnostic system

Research Project

Project/Area Number 19209019
Research Category

Grant-in-Aid for Scientific Research (A)

Allocation TypeSingle-year Grants
Section一般
Research Field Laboratory medicine
Research InstitutionKyushu University

Principal Investigator

KANG Dongchon  Kyushu University, 大学院・医学研究院, 教授 (80214716)

Co-Investigator(Kenkyū-buntansha) KAYAMORI Yuzo  九州大学, 大学病院, 技師長 (90398066)
UCHIUMI Takeshi  九州大学, 大学院・医学研究院, 准教授 (80253798)
KANKI Tomotake  九州大学, 大学病院, 助教 (50398088)
FUKUOH Atsushi  九州大学, 大学病院, 助教 (80363365)
TAKAYANAGI Ryoichi  九州大学, 大学院・医学研究院, 教授 (30154917)
KONO Suminori  九州大学, 大学院・医学研究院, 教授 (70128015)
Project Period (FY) 2007 – 2009
Project Status Completed (Fiscal Year 2009)
Budget Amount *help
¥50,440,000 (Direct Cost: ¥38,800,000、Indirect Cost: ¥11,640,000)
Fiscal Year 2009: ¥9,620,000 (Direct Cost: ¥7,400,000、Indirect Cost: ¥2,220,000)
Fiscal Year 2008: ¥14,430,000 (Direct Cost: ¥11,100,000、Indirect Cost: ¥3,330,000)
Fiscal Year 2007: ¥26,390,000 (Direct Cost: ¥20,300,000、Indirect Cost: ¥6,090,000)
KeywordsミトコンドリアDNA / 遺伝子診断 / 活性酸素 / 糖尿病 / ミトコンドリア病 / 遺伝子多型 / 老化
Research Abstract

The following three projects are integrated for further understanding of mitochondrial disease and for construction of its diagnostic system : (1) molecular mechanism of maintenance of mitochondrial DNA (mtDNA), (2) molecular diagnosis of mitochondrial disease, and (3) mtDNA analysis of somatic cells. Now we accept genetic tests of mitochondrial disease from all over Japan. During this period, we have shown that maintenance of mtDNA can delay natural aging process in TFAM-expressing transgenic mice. The mtDNA analysis of somatic cells is on going.

Report

(4 results)
  • 2009 Annual Research Report   Final Research Report ( PDF )
  • 2008 Annual Research Report
  • 2007 Annual Research Report
  • Research Products

    (54 results)

All 2010 2009 2008 2007 Other

All Journal Article (47 results) (of which Peer Reviewed: 46 results) Presentation (5 results) Remarks (2 results)

  • [Journal Article] IFCC reference procedures for catalytic concentration measurement of enzymes: Corrigendum, notes and useful advice.2010

    • Author(s)
      Schumann, G., Canalias, F., Joergensen, P.J., Kang, D., Klauke, R.
    • Journal Title

      Clin. Chem. Lab. Med. 48

      Pages: 615-621

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Sorafenib with doxorubicin augments cytotoxicity to renal cell cancer through PERK inhibition.2010

    • Author(s)
      Shiota, M., Eto, M., Yokomizo, A., Tada, Y., Takeuchi, A., Masubuchi, D., Inokuchi, J., Tatsugami, K., Kuroiwa, K., Uchiumi, T., et al.
    • Journal Title

      Int J Oncol 36

      Pages: 1521-1531

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Human heterochromatin protein 1 isoform HP1{beta} enhances androgen receptor activity and is implicated in prostate cancer growth.2010

    • Author(s)
      Shiota, M., Song, Y., Yokomizo, A., Tada, Y., Kuroiwa, K., Eto, M., Oda, Y., Inokuchi, J., Uchiumi, T., Fujimoto, N., et al.
    • Journal Title

      Endocr Relat Cancer

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Foxo3a expression and acetylation regulate cancer cell growth and sensitivity to cisplatin.2010

    • Author(s)
      Shiota, M., Yokomizo, A., Kashiwagi, E., Tada, Y., Inokuchi, J., Tatsugami, K., Kuroiwa, K., Uchiumi, T., Seki, N., Naito, S.
    • Journal Title

      Cancer Sci.

    • NAID

      10026592158

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Tip60 promotes prostate cancer cell proliferation by translocation of androgen receptor into the nucleus.2010

    • Author(s)
      Shiota, M., Yokomizo, A., Masubuchi, D., Tada, Y., Inokuchi, J., Eto, M., Uchiumi, T., Fujimoto, N., Naito, S.
    • Journal Title

      Prostate 70

      Pages: 540-554

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Castration resistance of prostate cancer cells caused by castration-induced oxidative stress through Twist1 and androgen receptor overexpression.2010

    • Author(s)
      Shiota, M., Yokomizo, A., Tada, Y., Inokuchi, J., Kashiwagi, E., Masubuchi, D., Eto, M., Uchiumi, T., Naito, S.
    • Journal Title

      Oncogene 29

      Pages: 237-250

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Peroxisome proliferator-activated receptor gamma coactivator-1alpha interacts with the androgen receptor (AR) and promotes prostate cancer cell growth by activating the AR.2010

    • Author(s)
      Shiota, M., Yokomizo, A., Tada, Y., Inokuchi, J., Tatsugami, K., Kuroiwa, K., Uchiumi, T., Fujimoto, N., Seki, N., Naito, S.
    • Journal Title

      Mol Endocrinol 24

      Pages: 114-127

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Mutation of His 834 in human anion exchanger 1 affects substrate binding.2010

    • Author(s)
      Takazaki, S., Abe, Y., Yamaguchi, T., Yagi, M., Ueda, T., Kang, D., Hamasaki, N.
    • Journal Title

      Biochim Biophys Acta 1798

      Pages: 903-908

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] ERAL1 is associated with mitochondrial ribosome and elimination of ERAL1 leads to mitochondrial dysfunction and growth retardation.2010

    • Author(s)
      Uchiumi, T., Ohgaki, K., Yagi, M., Aoki, Y., Sakai, A., Matsumoto, S., Kang, D.
    • Journal Title

      Nucleic Acids Res.

    • NAID

      120005227389

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Helical image reconstruction of the outward-open human erythrocyte band 3 membrane domain in tubular crystals.2010

    • Author(s)
      amaguchi, T., Fujii, T., Abe, Y., Hirai, T., Kang, D., Namba, K., Hamasaki, N., Mitsuoka, K.
    • Journal Title

      J Struct Biol 169

      Pages: 406-412

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Structure of the membrane domain of human erythrocyte anion exchanger 1 revealed by electron crystallography.2010

    • Author(s)
      Yamaguchi, T., Ikeda, Y., Abe, Y., Kuma, H., Kang, D., Hamasaki, N., Hirai, T.
    • Journal Title

      J Mol Biol 397

      Pages: 179-189

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Clonal spread in Eastern Asia of ciprofloxacin-resistant Escherichia coli serogroup O25 strains, and associated virulence factors.2010

    • Author(s)
      Uchida, Y., Mochimaru, T., Morokuma, Y., Kiyosuke, M., Fujise, M., Eto, F., Eriguchi, Y., Nagasaki, Y., Shimono, N., Kang, D.
    • Journal Title

      Int J Antimicrob Agents 35

      Pages: 444-450

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Geographic distribution of fluoroquinolone-resistant Escherichia coli strains in Asia.2010

    • Author(s)
      Uchida, Y., Mochimaru, T., Morokuma, Y., Kiyosuke, M., Fujise, M., Eto, F., Harada, Y., Kadowaki, M., Shimono, N., Kang, D.
    • Journal Title

      Int J Antimicrob Agents 35

      Pages: 387-391

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Mutation of His 834 in human anion exchanger 1 affects substrate binding. Biochim2010

    • Author(s)
      Takazaki, S., et al.
    • Journal Title

      Biochim Biophys Acta, 1798,

      Pages: 903-908

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Helical image reconstruction of the outward-open human erythrocyte band 3 membrane domain in tubular crystals.2010

    • Author(s)
      Yamaguchi, T., et al.
    • Journal Title

      J Struct Biol, 169,

      Pages: 406-412

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Structure of the membrane domain of human erythrocyte anion exchanger 1 revealed by electron crystallography.2010

    • Author(s)
      Yamaguchi, T., et al.
    • Journal Title

      J Mol Biol, 397,

      Pages: 179-189

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] DNA conformation-dependent activities of human mitochondrial RNA polymerase.2009

    • Author(s)
      Fukuoh, A., Ohgaki, K., Hatae, H., Kuraoka, I., Aoki, Y., Uchiumi, T., Jacobs, H.T., Kang, D.
    • Journal Title

      Genes Cells 14

      Pages: 1029-1042

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Development of a new measurement method for serum calcium with chlorophosphonazo-III.2009

    • Author(s)
      Hokazono, E., Osawa, S., Nakano, T., Kawamoto, Y., Oguchi, Y., Hotta, T., Kayamori, Y., Kang, D., Cho, Y., Shiba, K., et al.
    • Journal Title

      Ann Clin Biochem 46

      Pages: 296-301

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Fulminant sepsis/meningitis due to Haemophilus influenzae in a protein C-deficient heterozygote treated with activated protein C therapy.2009

    • Author(s)
      Ishimura, M., Saito, M., Ohga, S., Hoshina, T., Baba, H., Urata, M., Kira, R., Takada, H., Kusuhara, K., Kang, D., et al.
    • Journal Title

      Eur J Pediatr 168

      Pages: 673-677

    • Related Report
      2009 Final Research Report
  • [Journal Article] Atg32 is a mitochondrial protein that confers selectivity during mitophagy.2009

    • Author(s)
      Kanki, T., Wang, K., Cao, Y., Baba, M., Klionsky, D.J.
    • Journal Title

      Dev Cell 17

      Pages: 98-109

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] A genomic screen for yeast mutants defective in selective mitochondria autophagy.2009

    • Author(s)
      Kanki, T., Wang, K., Baba, M., Bartholomew, C.R., Lynch-Day, M.A., Du, Z., Geng, J., Mao, K., Yang, Z., Yen, W.L., et al.
    • Journal Title

      Mol Biol Cell 20

      Pages: 4730-4738

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] High-dose penicillin G-treatment causes underestimation of serum albumin measured by a modified BCP method.2009

    • Author(s)
      Ono, M., Aoki, Y., Masumoto, M., Hotta, T., Uchida, Y., Kayamori, Y., Kang, D.
    • Journal Title

      Clin. Chim. Acta 407

      Pages: 75-76

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Human heart mitochondrial DNA is organized in complex catenated networks containing abundant four-way junctions and replication forks.2009

    • Author(s)
      Pohjoismaki, J.L., Goffart, S., Tyynismaa, H., Willcox, S., Ide, T., Kang, D., Suomalainen, A., Karhunen, P.J., Griffith, J.D., Holt, I.J., et al.
    • Journal Title

      J Biol Chem 284

      Pages: 21446-21457

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Association of a novel mitochondrial protein M19 with mitochondrial nucleoids.2009

    • Author(s)
      Sumitani, M., Kasashima, K., Ohta, E., Kang, D., Endo, H.
    • Journal Title

      J Biochem 146

      Pages: 725-732

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Methods for Assessing Binding of Mitochondrial Transcription Factor A (TFAM) to DNA.2009

    • Author(s)
      Fukuoh, A., Kang, D.
    • Journal Title

      Methods Mol Biol 554

      Pages: 87-101

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Monitoring mitophagy in yeast: the Om45-GFP processing assay.2009

    • Author(s)
      Kanki, T., Kang, D., Klionsky, D.J.
    • Journal Title

      Autophagy 5

      Pages: 1186-1189

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] DNA conformation-dependent activities of human mitochondrial RNA polymerase.2009

    • Author(s)
      Fukuoh, A., et al.
    • Journal Title

      Genes Cells, 14,

      Pages: 1029-1042

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Development of a new measurement method for serum calcium with chlorophosphonazo-III.2009

    • Author(s)
      Hokazono, E., et al.
    • Journal Title

      Ann Clin Biochem, 46,

      Pages: 296-301

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Fulminant sepsis/meningitis due to Haemophilus influenzae in a protein C-deficient heterozygote treated with activated protein C therapy.2009

    • Author(s)
      Ishimura, M., et al.
    • Journal Title

      Eur J Pediatr, 168,

      Pages: 673-677

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] High-dose penicillin G-treatment causes underestimation of serum albumin measured by a modified BCP method.2009

    • Author(s)
      Ono, M., et al.
    • Journal Title

      Clin. Chim. Acta, 407,

      Pages: 75-76

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Human heart mitochondrial DNA is organized in complex catenated net works containing abundant four-way junctions and replication forks.2009

    • Author(s)
      Pohjoismaki, J.L., et al.
    • Journal Title

      J Biol Chem, 284

      Pages: 21446-21457

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Association of a novel mitochondrial protein M19 with mitochondrial nucleoids.2009

    • Author(s)
      Sumitani, M., et al.
    • Journal Title

      J Biochem, 146,

      Pages: 725-732

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Fulminant sepsis/meningitis due to Haemophilus influenzae in a protein C-deficient heterozygote treated with activated protein C therapy2009

    • Author(s)
      Ishimura, M., et al.
    • Journal Title

      Eur J Pediatr (In press)

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Reverse of age-dependent memory impairment and mitochondrial DNA damage in microglia by an overexpression of human mitochondrial transcription factor a in mice.2008

    • Author(s)
      Hayashi, Y., Yoshida, M., Yamato, M., Ide, T., Wu, Z., Ochi-Shindou, M., Kanki, T., Kang, D., Sunagawa, K., Tsutsui, H., et al.
    • Journal Title

      J Neurosci 28

      Pages: 8624-8634

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Decreased maternal protein S activity is associated with fetal growth restriction.2008

    • Author(s)
      Hojo, S., Tsukimori, K., Kinukawa, N., Hattori, S., Kang, D., Hamasaki, N., Wake, N.
    • Journal Title

      Thromb Res 123

      Pages: 55-59

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Thromboembolic Complications in Splenectomized Patients with Dominantly Inherited beta-Thalassemia.2008

    • Author(s)
      Ohga, S., Ideguchi, H., Kato, J., Ishimura, M., Takada, H., Harada, N., Kawanaka, H., Hattori, Y., Kang, D., Hamasaki, N., et al.
    • Journal Title

      Acta Haematol 120

      Pages: 31-35

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Platelet contamination causes large variation as well as overestimation of mitochondrial DNA content of peripheral blood mononuclear cells.2008

    • Author(s)
      Urata, M., Koga-Wada, Y., Kayamori, Y., Kang, D.
    • Journal Title

      Ann Clin Biochem 45

      Pages: 513-514

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Platelet contamination causes large variation as well as overestimation of mitochondrial DNA content of peripheral blood monon uclear cells.2008

    • Author(s)
      Urata, M., et al.
    • Journal Title

      Ann Clin Biocbem 45

      Pages: 513-514

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Thromboembolic Complications in Splenectomized Patients with Dominantly Inherited beta-Thalassemia2008

    • Author(s)
      Ohga, S., et al.
    • Journal Title

      Acta Haematol 120

      Pages: 31-35

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Decreased maternal protein S activity is associated with fetal growth restriction.2008

    • Author(s)
      Hojo, S., et al.
    • Journal Title

      Thromb Res 123

      Pages: 55-59

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Reverse of age-dependent memory impairment and mitochondrial DNA damage in microglia by an overexpression of human mitochondrial transcription factor a in mice.2008

    • Author(s)
      Hayashi, Y., et al.
    • Journal Title

      J Neurosci 28

      Pages: 8624-8634

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Decreased maternal protein S activity is associated with fetal growth restriction2008

    • Author(s)
      Satoshi H., et. al.
    • Journal Title

      Thrombosis Research (In press)

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Platelet contamination causes large cariation as well as overestimation of mitochomdrial DNA content of peripheral blood mononuclear cells2008

    • Author(s)
      Urata, M., et. al.
    • Journal Title

      Annals of Clinical Biochemistry (In press)

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Journal Article] The C-terminal tail of mitochondrial transcription factor a markedly strengthens its general binding to DNA.2007

    • Author(s)
      Ohgaki, K., Kanki, T., Fukuoh, A., Kurisaki, H., Aoki, Y., Ikeuchi, M., Kim, S.H., Hamasaki, N., Kang, D.
    • Journal Title

      J Biochem 141

      Pages: 201-211

    • NAID

      10020101269

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Mitochondrial transcription factor A (TFAM): roles in maintenance of mtDNA and cellular functions.2007

    • Author(s)
      Kang, D., Kim, S.H., Hamasaki, N.
    • Journal Title

      Mitochondrion 7

      Pages: 39-44

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] The C-terminal tail of mitochondrial transcription factor a markedly strengthen its general binding to DNA2007

    • Author(s)
      Ohgaki, K., et. al.
    • Journal Title

      J Biochem 141

      Pages: 201-211

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Mitochondrial transcription factor A (TFAM):roles in maintenance of mtDNA and cellular functions2007

    • Author(s)
      Kang, D., et. al.
    • Journal Title

      Mitochondrion 7

      Pages: 39-44

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Presentation] Mitochondria: genome and ROS2009

    • Author(s)
      D. Kang
    • Organizer
      Summer School of Society of Free Radical Research International
    • Place of Presentation
      Niigata
    • Related Report
      2009 Final Research Report
  • [Presentation] Importance of Mitochondrial Genome in Cellular Functions2009

    • Author(s)
      D. Kang
    • Organizer
      The 21st Annual Meeting of the Korean Society of Molecular and Cellular Biology
    • Place of Presentation
      Seoul, Korea
    • Related Report
      2009 Final Research Report
  • [Presentation] Promoter-independent RNA synthesis activity of human mitochondrial RNA polymerase2008

    • Author(s)
      D. Kang
    • Organizer
      The 7th European Meeting on Mitochondrial Pathology
    • Place of Presentation
      Stockholm, Sweden
    • Related Report
      2009 Final Research Report
  • [Presentation] Primase-like function of Mitochondrial RNA Polymerase2007

    • Author(s)
      D. Kang
    • Organizer
      ScandoMit2007
    • Place of Presentation
      Teisko, Finland
    • Related Report
      2009 Final Research Report
  • [Presentation] Importance of mtDNA Nucleoid in Maintenance of mtDNA and Prevention of Apoptosis2007

    • Author(s)
      D. Kang
    • Organizer
      The 4th Conference of the Asian Society for Mitochondrial Research and Medicine
    • Place of Presentation
      Seoul Korea
    • Related Report
      2009 Final Research Report
  • [Remarks] ホームページ

    • URL

      http://www.med.kyushu-u.ac.jp/cclm/

    • Related Report
      2009 Final Research Report
  • [Remarks]

    • URL

      http://www.med.kyushu-u.ac.jp/cclm/kyositu/index.html

    • Related Report
      2009 Annual Research Report

URL: 

Published: 2007-04-01   Modified: 2016-04-21  

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