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1992 Fiscal Year Final Research Report Summary

Mutations of mitochondrial genome in spinocerebellar degeneration

Research Project

Project/Area Number 03807048
Research Category

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

Allocation TypeSingle-year Grants
Research Field Neurology
Research InstitutionNagoya University

Principal Investigator

TANAKA Masashi  Department of Biomedical Chemistry,Faculty of Medicine,University of Nagoya,Associate Professor, 医学部, 助教授 (60155166)

Co-Investigator(Kenkyū-buntansha) SAHASHI Ko  Neurol.Section,Dept.of Med.,Aichi Med.Univ.,Associate Professor, 医学部, 助教授 (90131242)
OZAWA Takayuki  Dept.of Biomed.Chem.,Fac.of Med.,Univ.of Nagoya,Professor, 医学部, 教授 (80022771)
Project Period (FY) 1991 – 1992
KeywordsSpinocerebellar degeneration / Mitochondria / Mitochondrial DNA / Ataxia / Nucleotide sequencing / Point mutation / Energy production / Ageing
Research Abstract

Spinocerebellar degeneration represents a group of heterogeneous degenerative diseases showing ataxia as the main symptom. This disorder is clinically characterized by slowly progressive course,and various combinations of signs and symptoms of the pyramidal and extrapyramidal tracts and the peripheral nervous system. In order to investigate the possible role of mitochondrial dysfunction in the pathogenesis of extensive neuronal degeneration in this disorder,we have analyzed the mutations of mitochondrial DNA in patients with spinocerebellar degeneration. Mitochondrial DNA(mtDNA)was amplified by the polymerase chain reaction (PCR)from DNA isolated from platelets of each patient.The single strand DNA was amplified from the first PCR product by using the asymmetric PCR method. The second PCR product was used as the template for the fluorescence-based direct PCR sequencing. Sequences of these mtDNA fragments were analyzed by an automated DNA sequencer. In 43 cases of spinocerebellar degene … More ration,sequence analysis and restriction fragment analysis revealed neither the 8344 A-to-G nucleotide substitution reported in patients with MERRF syndrome nor the 8993 G-to-T transversion reported in a patient with cerebellar ataxia,retinitis pigmentosa, and cardiomyopathy. Sequence analysis of the whole mtDNA from two patients whose family histories were consistent with maternal inheritance revealed multiple mutations in the non-coding regions,rRNA genes,and mRNA genes. Although some of these mutations in these two patients were also observed in other disease and normal controls,several nonsynonymous mutations in Patient 2 were not found in the normal controls. Both of the mutations in the ND2 and ATP6 genes in Patient 2 were also found in a paient with Parkinson's disease as well as in Control 1,who died at the age of 55 from gastric cancer. The possible involvement of these mutations in the pathogenesis of spinocerebellar degeneration must be evaluated from further study on the sequence heterogeneity of mtDNA among normal controls as well as disease controls. Less

  • Research Products

    (30 results)

All Other

All Publications (30 results)

  • [Publications] Y.Mizuno: "Mitochondrial energy crisis in Parkinson's disease." Adv Neurol. 60. 282-7 (1993)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] T.Ito: "Mitochondrial DNA mutations cardiomyopathy." Jpn Circ J. 56. 1045-53 (1992)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] M.Kanai: "Mitochondrial dysfunction in the non-obstructed lobe of rat liver after selective biliary obstruction." Hepatogastroenterology. 39. 385-91 (1992)

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      「研究成果報告書概要(和文)」より
  • [Publications] T.Obayashi: "Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy." Am.Heart J.24. 1263-1269 (1992)

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      「研究成果報告書概要(和文)」より
  • [Publications] K.Sahashi: "Increased mitochondrial DNA deletions in the skeletal muscle of myotonic dystrophy." Gerontology. 38. 18-29 (1992)

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      「研究成果報告書概要(和文)」より
  • [Publications] K.Torii: "Aging-associated deletions of human diaphragmatic mitochondrial DNA." Am J Respir Cell Mol Biol. 6. 543-9 (1992)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] H.Yamamoto: "Significant existence of deleted mitochondrial DNA in cirrhotic liver surrounding hepatic tumor." Biochem Biophys Res Commun. 182. 913-20 (1992)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] N.Hattori: "Immumohistochemical studies on complexes I,II,III,and IV of mitochondria in Parkinson's disease." Ann Neurol. 30. 563-71 (1991)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] M.Katayama: "Deleted mitochondrial DNA in the skeletal muscle of aged individuals." Biochem Int. 25. 47-56 (1991)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Y.Ota: "Delection of deletions in platelet mitochondrial DNA in Kearns-Sayre syndrome using polymerase chain reaction." Nippon Ganka Gakkai Zasshi. 95. 776-82 (1991)

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      「研究成果報告書概要(和文)」より
  • [Publications] T.Ozawa: "Mitochondrial DNA mutations and disturbances of energy metabolism in myocardium." Jpn CircJ. 55. 1158-64 (1991)

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      「研究成果報告書概要(和文)」より
  • [Publications] Tanaka M,Ino H,Ohno K,Ohbayashi T,Ikebe S,Sano T,Ichiki T,Kobayashi M,Wada Y and Ozawa T: "Mitochondrial DNA mutations in mitochondrial myopathy,encephalopathy,lactic acidosis,and strokelike episodes(MELAS)." Biochem Biophys Res Commun. 174. 861-8 (1991)

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      「研究成果報告書概要(欧文)」より
  • [Publications] Ozawa T,Tanaka M,Sugiyama S,Ino H,Ohno K,Hattori K,Ohbayashi T,Ito T,Deguchi H,Kawamura K and et al: "Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson's disease and mitochondrial encephalomyopathy." Biochem Biophys Res Commun. 177. 518-25 (1991)

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      「研究成果報告書概要(欧文)」より
  • [Publications] Ozawa T,Tanaka M,Ino H,Ohno K,Sano T,Wada Y,Yoneda M,Tanno Y,Miyatake T,Tanaka T and et al: "Distinct clustering of point mutations in mitochondrial DNA among patients with mitochondrial encephalomyopathies and with Parkinson's disease." Biochem Biophys Res Commun. 176. 938-46 (1991)

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      「研究成果報告書概要(欧文)」より
  • [Publications] Ota Y,Tanaka M,Sato W,Ohno K,Yamamoto T,Maehara M,Negoro T,Watanabe K,Awaya S and Ozawa T: "Detection of platelet mitochondrial DNA deletions in Kearns-Sayre syndrome." Invest Ophthalmol Vis Sci. 32. 2667-75 (1991)

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      「研究成果報告書概要(欧文)」より
  • [Publications] Ohno K,Tanaka M,Suzuki H,Ohbayashi T,Ikebe S,Ino H,Kumar S,Takahashi A and Ozawa T: "Identification of a possible control element,Mt5,in the major noncoding region of mitochondrial DNA by intraspecific nucleotide conservation." Biochem Int. 24. 263-72 (1991)

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      「研究成果報告書概要(欧文)」より
  • [Publications] Ohno K,Tanaka M,Suzuki H,Ohbayashi T,Ikebe S,Ino H,Kumar S,Takahashi A and Ozawa T: "Identification of a possible control element,Mt5,in the major noncoding region of mitochondrial DNA as intraspecific nucleotide conservation." Biochem Int. 24. 263-272 (1991)

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      「研究成果報告書概要(欧文)」より
  • [Publications] Ohno K,Tanaka M,Sahashi K,Ibi T,Sato W,Yamamoto T,Takahashi A and Ozawa T: "Mitochondrial DNA deletions in inherited recurrent myoglobinuria." Ann Neurol. 29. 364-9 (1991)

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      「研究成果報告書概要(欧文)」より
  • [Publications] Ohno K,Tanaka M,Ino H,Suzuki H,Tashiro M,Ibi T,Sahashi K,Takahashi A and Ozawa T: "Direct DNA sequencing from colony:analysis of multiple deletions of mitochondrial genome." Biochim Biophys Acta. 1090. 9-16 (1991)

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      「研究成果報告書概要(欧文)」より
  • [Publications] Katoh T,Tanaka M,Nimura Y,Kanai M,Nagino M and Ozawa T: "Enhancement of rat liver mitochondrial function by portal branch ligation secures subsequent extended hepatectomy." Biochem Int. 24. 107-16 (1991)

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      「研究成果報告書概要(欧文)」より
  • [Publications] Katayama M,Tanaka M,Yamamoto H,Ohbayashi T,Nimura Y and Ozawa T: "Deleted mitochondrial DNA in the skeletal muscle of aged individuals." Biochem Int. 25. 47-56 (1991)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Kanai M,Tanaka M,Nimura Y,Nagino M,Katoh T and Ozawa T: "Mechanism of adaptive increase of respiratory enzymes in rat liver mitochondria during obstructive jaundice." Biochem Int. 23. 1165-73 (1991)

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      「研究成果報告書概要(欧文)」より
  • [Publications] Ino H,Tanaka M,Ohno K,Hattori K,Ikebe S,Sano T,Ozawa T,Ichiki T,Kobayashi M and Wada Y: "Mitochondrial leucine tRNA mutation in a mitochondrial encephalomyopathy [letter;comment]." Lancet. 337. 234-5 (1991)

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      「研究成果報告書概要(欧文)」より
  • [Publications] Hayakawa M,Torii K,Sugiyama S,Tanaka M and Ozawa T: "Age-associated accumulation of 8-hydroxydeoxyguanosine in mitochondrial DNA of human diaphragm." Biochem Biophys Res Commun. 179. 1023-9 (1991)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Hattori N,Tanaka M,Ozawa T and Mizuno Y: "Immunohistochemical studies on complexes I,II,III,and IV of mitochondria in Parkinson's disease." Ann Neurol. 30. 563-71 (1991)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Hattori K,Tanaka M,Sugiyama S,Obayashi T,Ito T,Satake T,Hanaki Y,Asai J,Nagano M and Ozawa T: "Age-dependent increase in deleted mitochondrial DNA in the human heart:possible contributory factor to presbycardia." Am Heart J. 121. 1735-42 (1991)

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      「研究成果報告書概要(欧文)」より
  • [Publications] Hattori K,Ogawa T,Kondo T,Mochizuki M,Tanaka M,Sugiyama S,Ito T,Satake T and Ozawa T: "Cardiomyopathy with mitochondrial DNA mutations." Am Heart J. 866-9 (1991)

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      「研究成果報告書概要(欧文)」より
  • [Publications] Byrne E,Trounce I,Marzuki S,Dennett X,Berkovic SF,Davis S,Tanaka M and Ozawa T: "Functional respiratory chain studies in mitochondrial cytopathies. Support for mitochondrial DNA heteroplasmy in myoclonus epilepsy and ragged red fibers (MERRF)syndrome." Acta Neuropathol(Berl). 81. 318-23 (1991)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Yamamoto H,Tanaka M,Katayama M,Obayashi T,Nimura Y and Ozawa T: "Significant existence of deleted mitochondrial DNA in cirrhotic liver surrounding hepatic tumor." Biochem Biophys Res Commun. 182. 913-20 (1992)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Torii K,Sugiyama S,Tanaka M,Takagi K,Hanaki Y,Iida K,Matsuyama M,Hirabayashi N,Uno Y and Ozawa T: "Aging-associated deletions of human diaphragmatic mitochondrial DNA." Am J Respir Cell Mol Biol. 6. 543-9 (1992)

    • Description
      「研究成果報告書概要(欧文)」より

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Published: 1994-03-24  

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