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Molecular Pathology on Mitochondrial Encepholomyopathy

Research Project

Project/Area Number 04670151
Research Category

Grant-in-Aid for General Scientific Research (C)

Allocation TypeSingle-year Grants
Research Field General medical chemistry
Research InstitutionJichi Medical School

Principal Investigator

OHTA Shigeo  自治医科大学, 医学部, 助教授 (00125832)

Project Period (FY) 1992 – 1993
Project Status Completed (Fiscal Year 1993)
Budget Amount *help
¥2,100,000 (Direct Cost: ¥2,100,000)
Fiscal Year 1993: ¥800,000 (Direct Cost: ¥800,000)
Fiscal Year 1992: ¥1,300,000 (Direct Cost: ¥1,300,000)
KeywordsMitochondria / Encepholomyopathy / Mitochondrial DNA / tRNA / Genetic Disease / Protein Synthesis / ミトコンドリアONA / ミトコンドリア / MELAS / 点変異 / 培養細胞
Research Abstract

A new mitochondrial DNA (mtDNA) mutation of tRNA^<Leu(UUR)> at nucleotide position 3271 (MELAS3271) was determined to be involved in the pathogenic process of mitochondrial diseases MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) using intercellular transfer of patient-derived mtDNA to mtDNA-less HeLa cells (p^0 HeLa cells). Cybrid clones containing imported mtDNA exclusively from a MELAS patient with MELAS3271 mtDNA were isolated, and the influence of MELAS3271 mtDNA on mitochondrial translation activity and mitochondrial respiratory complex I enzyme activity were examined. Accumulation of more than 87% MELAS3271 mutant mtDNA in the cybrid clones induced both low complex I activity and abnormal mtDNA-encoded polypeptide synthesis including at least complex I subunit ND6, suggesting involvement of the new MELAS-associated mutation in the pathogenesis.

Report

(3 results)
  • 1993 Annual Research Report   Final Research Report Summary
  • 1992 Annual Research Report
  • Research Products

    (26 results)

All Other

All Publications (26 results)

  • [Publications] Hayashi,J-I.,他: "Accumulation of mtDNA with a mutation at position 3271 in tRNA-Leu(UUR)gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function." Biochem.Biophys.Res.Commun.197. 1049-1055 (1993)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1993 Final Research Report Summary
  • [Publications] Shiraiwa,N.,他: "Content of mutant mitochondrial DNA and organ-dysfunction in a patient with a MELAS-subgroup of mitochondrial encephalomyopathies." J.Neurol.Sci.120. 174-179 (1993)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1993 Final Research Report Summary
  • [Publications] Nakano,K.,他: "Human dihydrolipoamide succinyltransferase;cDNA cloning and localization on chromosome 14q24.2-q24.3" Biochim.Biophys.Acta.1216. 360-368 (1993)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1993 Final Research Report Summary
  • [Publications] Matsuda,C.,他: "Gene structure of human mitochondrial ATP synthase γ-subunit;Tissue specificity produced by RNA splicing." J.Biol.Chem.268. 24950-24958 (1993)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1993 Final Research Report Summary
  • [Publications] Tominaga,K.,他: "Smaller isoform of human mitochondrial transcription factor 1:Its wide distribution and production by alternative splicing." Biochem.Biophys.Res.Commun.194. 544-551 (1993)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1993 Final Research Report Summary
  • [Publications] Takiyama,Y.,他: "The gene for Machado-Joseph disease maps to human chromosome 14q" Nature Genetics. 4. 300-304 (1993)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1993 Final Research Report Summary
  • [Publications] Kobayashi Y,, Ichihashi K., Ohta S., Nihei K., Kagawa Y., Yanagisawa M.and Momoi M.Y.: "The mutant mitochondrial genes in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes(MELAS) were selectively amplified through generations." J.Inher.Metab.Dis.15. 803-808 (1992)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1993 Final Research Report Summary
  • [Publications] Tominaga K., Akiyama S., Kagawa Y.and Ohta S.: "Upstream region of a genomic gene for human mitochondrial transcription factor 1." Biochem.Biophys.Acta.1131. 217-219 (1992)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1993 Final Research Report Summary
  • [Publications] Matsuda C., Endo H., Ohta S.and Kagawa Y.: "Gene structure of human mitochondrial ATP synthase gamma-subunit ; Tissue specificity produced by RNA splicing." J.Biol.Chem.268. 24950-24958 (1993)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1993 Final Research Report Summary
  • [Publications] Tominaga K., Hayashi J-I, Kagawa Y.and Ohta S.: "Smaller isoform of human mitochondrial transcription factor 1 : Its wide distribution and production by alternative splicing." Biochem.Biophys.Res.Commun.194, (1). 544-551 (1993)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1993 Final Research Report Summary
  • [Publications] Matsuda S., Nakano K., Ohta S., Shimura M., Yamanaka T., Nakagawa S., Titani K.and Miyata T.: "Molecular cloning of dihydrolipoamide acetyltransferase of the rat pyruvate dehydrogenase complex : sequence comparison and evolutionary relationship to other dihydrolipoamide acetyltransferase" Biochem.Biophys.Acta.1216. 360-368 (1993)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1993 Final Research Report Summary
  • [Publications] Nakano K., Takase C., Sakamoto T., Ohta S., Nakagawa S., Ariyama, Inazawa J., Abe T.and Matsuda S.: "An unspliced cDNA for human dihydrolipoamide succinyltransferase : Characterization and mapping of the gene to chromosome 14q24.2-q24.3." Biochem.Biophys.Res.Commun.196, (2). 527-533 (1993)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1993 Final Research Report Summary
  • [Publications] Hayashi J-I., Ohta S., Takai D., Miyabayashi S., Sakuta R., Goto Y-i. and Nonaka I.: "Accumulation of mtDNA with a mutation at position 3271 in tRNA-Leu(UUR) gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function." Biochem.Biophys.Res.Commun.197, (3). 1049-1055 (1993)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1993 Final Research Report Summary
  • [Publications] Shiraiwa N., Ishii A., Iwamoto H., Mizusawa H., Kagawa Y.and Ohta S.: "Content of mutant mitochondrial DNA and organ-dysfunction in a patient with a MELAS-subgroup of mitochondrial encephalomyopathies." J.Neurol.Sci.120. 174-179 (1993)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1993 Final Research Report Summary
  • [Publications] Hayashi,J-I.,他: "Accumulation of mtDNA with a mutation at position 3271 in tRNA-Leu(UUR)gene introduced from a MELAS patient to HeLa Cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function." Biochem.Biophys Res..Commun.197. 1049-1055 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] Shiraiwa.N.,他: "Content of mutant mitochondrial DNA and organ-dysfunction in a patient with a MELAS-subgroup of mitochondrial encephalomyopathies." J.Neurol.Sci.120. 174-179 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] Nakano,K.,他: "Human dihydrolipomide succinyltraferase;cDNA cloning and localization on chromosome 14q24.2-q24.3" Biochim Biophys.Acta.1216. 360-368 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] Matsuda,D.,他: "Gene structure of human mitochondrial ATP synthase gamma-subunit;Tissue specificity produced by RNA splicing" J.Biol Chem..268. 24950-24958 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] Tominaga,K.,他: "Smaller isoform of human mitochondrial transcription factor 1:Its wide distribution and production by alternative splicing." Biochem.Biophys.Res.Commun.194. 544-551 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] Takiyama,Y.,他: "The gene for Machado-Joseph disease maps to human chromosome 14q" Nature Genetics. 4. 300-304 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] 太田 成男: "変異ミトコンドリアtRNAによるミトコンドリア病の発症機序" Cell Science. 8. 714-721 (1992)

    • Related Report
      1992 Annual Research Report
  • [Publications] 太田 成男: "ミトコンドリアDNAの遺伝情報の発現制御" 神経研究の進歩. 36. 986-992 (1992)

    • Related Report
      1992 Annual Research Report
  • [Publications] 太田 成男: "ミトコンドリア遺伝子と核遺伝子の関係" 代謝. 29. 209-216 (1992)

    • Related Report
      1992 Annual Research Report
  • [Publications] 太田 成男: "ミトコンドリア遺伝子点突然変異による疾患" 細胞工学. 11. 47-53 (1992)

    • Related Report
      1992 Annual Research Report
  • [Publications] Kabayashi,Y.: "The mutant mitochondrial genes in mitochondrial myopathy,encepholopathy,lactic acidosis and stroke-like episodes (MELAS)were selectively amplified through generations." J.Inher.Metab.Dis.15. 803-808 (1992)

    • Related Report
      1992 Annual Research Report
  • [Publications] Tominaga,K.: "Upstream region of a genomic gene for human mitochondrial transcription factor 1" Biochim.Biophys.Acta. 1131. 217-219 (1992)

    • Related Report
      1992 Annual Research Report

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Published: 1992-04-01   Modified: 2016-04-21  

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