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Physiological role and effect of (CTG) n of myotonin protein kinase, the product of myotonic dystrophy gene.

Research Project

Project/Area Number 06670682
Research Category

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

Allocation TypeSingle-year Grants
Research Field Neurology
Research InstitutionNational Institute of Neuroscience, NCNP

Principal Investigator

TSUKAHARA Toshifumi  National Institute of Neuroscience, Dep.Neuromuscular Research, Sr.Staff Researcher, 神経研究所, 研究員 (60207339)

Co-Investigator(Kenkyū-buntansha) KOJO Tohru  Jichi Medical College, Dep.Neurology, Assistant Professor, 神経内科, 助手 (90215260)
ARAHATA Kiichi  National Institute of Neuroscience, Dep.Neuromuscular Research, Director, 神経センター・神経研究所, 部長 (30053325)
Project Period (FY) 1994 – 1995
Project Status Completed (Fiscal Year 1995)
Budget Amount *help
¥2,000,000 (Direct Cost: ¥2,000,000)
Fiscal Year 1995: ¥800,000 (Direct Cost: ¥800,000)
Fiscal Year 1994: ¥1,200,000 (Direct Cost: ¥1,200,000)
KeywordsMyotonic dystrophy / Myotonin protein kinase / Fusion protein / Specific antiserum / Western blot / CTG repeats
Research Abstract

Myotonin protein kinase is the product of the gene that causes Myotonic dystrophy. There were contradictory results on quantities of myotonin protein kinase in MD patients. To clarify whether the protein decrease or increase in the patients, we generated a fusion protein of myotonin protein kinase, and antisera against the fusion protein or peptides deduced from myotonin protein kinase cDNA.By western blot analysis using the antibody identified a specific 53kDa-myotonin protein kinase band, we found decreases in the amount of the protein in skeletal muscle of MD patients about in half. The amount of myotonin protein kinase showed negative correlation with the length of (CTG) n in MD patients. The result demonstrates that the decrease of the enzyme relates to the seriousness of the disease. Further, the antibody recognized a 62kDa protein in cardiac muscle and 53kDa and 62kDa proteins in brain, suggesting that there are tissue specific isoforms in myotonin kinase.
To investigate the mechanism of CTG repeats expansion, myoblasts from MD patients were cultured long term. However, there was no change in the length of (CTG) n during the passages. Therefore, the somatic heterogeneity of CTG repeats in MD patients seems to occur before symptom.
Since the fusion protein we generated is coverd the most part of myotonin protein kinase, we got some requests from abroad. We served our fusion protein by the requests and could contribute to the research.

Report

(3 results)
  • 1995 Annual Research Report   Final Research Report Summary
  • 1994 Annual Research Report
  • Research Products

    (26 results)

All Other

All Publications (26 results)

  • [Publications] Ritsuko Koga: "Decreased myotonin-protein kinase in the skeletal and cardiac muscle in myotonic dystrophy." Biocem. Biophys. Res. Commun.202. 577-585 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 篠原俊文: "遺伝子異常と神経疾患-Duchenne型筋ジストロフィー" Clinical Neuroscience. 12. 442-444 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 篠原俊文: "遺伝子診断と遺伝子治療-Duchenne型筋ジストロフィー" 現代化学. 増刊23. 55-58 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Toshifumi Tsukahara: "Regulation of alternative splicing in the amyloid precursor protein(APP)mRAN during the neuronal and glial differentiation of P19 embryonal carcinoma cells." Brain Res.679. 178-183 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yukiko. Hayashi: "Deficiency of laminin a2-chain mRNA in muscle in a patient with merosinnegative congenital muscular dystrophy." Muscle Nerve. 18. 1027-1030 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Atsushi Nagano: "Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy." Nature Genet.(in press).

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 塚原俊文: "臨床薬理の進歩 17巻" 財団法人 臨床薬理研究振興財団(印刷中),

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Ritsuko Koga: "Decreased myotonin-protein kinase in the skeletal and cardiac muscle in myotonic dystrophy." Biocem.Biophys.Res.Commun.202. 577-585 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Toshifumi Tsukahara: "Genetic Disorder and Neurological Disease-Duchenne Muscular Dystrophy (in Japaniese)" Clinical Neuroscience. 12. 442-444 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Toshifumi Tsukahara: "Genetic Diagnosis and Gene Therapy-Duchenne Muscular Dystrophy (in Japaniese)" Gendai Kagaku. Suppl.23. 55-58 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] T.Tsukahara: "Regulation of alternative splicing in the amyloid precursor protein (APP) mRNA during the neuronal and glial differentiation of P19 embryonal carcinoma cells." Brain Res.679. 178-183 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] YK.Hayashi: "Deficiency of laminin a2-chain mRNA in muscle in a patient with merosinnegative ongenital muscular dystrophy." Muscle Nerve. 18. 1027-1030 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Atsushi Nagano: "Emerin deficiency at the nulear membrane in patients with Emery-Dreifuss muscular dystrophy." Nature Genet. (in press).

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] T.Tsukahara: "(in Japaniese) Recent Advaces in Clinical Pharmacology Japan Research Foundation for Clinical Pharmacology in press."

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Toshifumi Tsukahara: "Regulation of alternative splicing in the amyloid precursor protein (APP)mRNA during the neuronal and glial differentiation of P19 embryonal carcinoma cells" Brain Res.679. 178-183 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Takanori Yamagata: "Hepatocyte growth factor specifically expressed in microglia activated Ras in the neurons, similar to the action of neurotrophic factors." Biocem. Biophys. Commun.210. 231-237 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Hiroyuki Sorimachi: "Identification of a third ubiquitous calpain species-chickin muscle express four distinct calpains." Biochim. Biophys. Acta. 1261. 381-393 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Eri Arikawa-Hirasawa: "A sever muscular dystrophy patient with an internally deleted very shot (110kD)dystorophin" Neuromusc. Disord.5. 429-438 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Yukio K. Hayashi: "Deficiency of laminin a2-chain mRNA in muscle in a patient with merosinnegative congenital muscular dystrophy." Muscle Nerve. 18. 1027-1030 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Atsushi Nagano: "Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy." Nature Genet.(in press).

    • Related Report
      1995 Annual Research Report
  • [Publications] 塚原俊文: "臨床薬理の進歩 17巻" 財団法人 臨床薬理研究振興財団(印刷中),

    • Related Report
      1995 Annual Research Report
  • [Publications] Ritsuko Koga: "Decreased myotonin-protein kinase in the skeletal and cardiac muscle in myotonic dystrophy." Biocem.Biophys.Res.Commun.202. 577-585 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] 塚原俊文: "遺伝子異常と神経疾患-Duchenne型筋ジストロフィー" Clinical Neuroscience. 12. 442-444 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] 塚原俊文: "遺伝子診断と遺伝子治療-Duchenne型筋ジストロフィー" 現代化学 増刊. 23. 55-58 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] Ayako Okada: "C-Jun inhibited the alternative splicing of neuron-specific amyloid precursor protein,but stimulated the non-neuron type one in P19 EC cells." Biocem.Biophys.Res.Commun.206. 821-828 (1995)

    • Related Report
      1994 Annual Research Report
  • [Publications] Toshifumi Tsukahara: "Regulation of alternative splicing in the amyloid precursor protein(APP)mRNA during the neuronal and glial differentiation of P19 embryonal carcinoma cells." Mol.Brain Res.in press. (1995)

    • Related Report
      1994 Annual Research Report

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Published: 1994-04-01   Modified: 2016-04-21  

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