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Studies on the molecular genetics and diagnostic and therapeutic procedures for myotonic dystrophy and allied disorders

Research Project

Project/Area Number 10557078
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section展開研究
Research Field Pediatrics
Research InstitutionJICHI MEDICAL SCHOOL

Principal Investigator

MOMOI Mariko  Jichi medical School, Department of Pediatrics, Professor, 医学部, 教授 (90166348)

Co-Investigator(Kenkyū-buntansha) NAKAMURA Miki  Jichi medical School, Department of Pediatrics, Instructor, 医学部, 助手 (20296114)
NOZAKI Yasuyuki  Jichi medical School, Department of Pediatrics, instructor, 医学部, 助手 (90281295)
TSURU Tomohiko  Jichi medical School, Department of Pediatrics, Assistant Professor, 医学部, 助手 (90296111)
斎藤 茂子 (斉藤 茂子)  自治医科大学, 医学部, 講師 (00260836)
Project Period (FY) 1998 – 2000
Project Status Completed (Fiscal Year 2001)
Budget Amount *help
¥5,000,000 (Direct Cost: ¥5,000,000)
Fiscal Year 2000: ¥2,400,000 (Direct Cost: ¥2,400,000)
Fiscal Year 1999: ¥2,600,000 (Direct Cost: ¥2,600,000)
Keywordsmyotonic dystrophy / trinucleotide repeat disorder / hemiplegic migraine / spinocerebellar degeneration / late-onset cerebellar ataxia / caspase-8 / caspase-12 / 先天性筋ジストロフィー / 細胞死 / caspase-3 / 三塩基対リピート疾患 / 脆弱X症候群 / Pfu polymerase ポリメラーゼ / 毛根 / 遺伝子診断 / 筋強直性ジストロフィー / MT-PK遺伝子 / DMAHP遺伝子
Research Abstract

Myotonic dystrophy is a neurodegenerative disorder in which abnormal extension of trinucleotide sequence is a causative gene abnormality, We have found a boy and mother who presented with myotonia, peripheral muscular atrophy, and mental retardation in the boy. DMPK analyses found that they did not carry the expanded trinucleotide repeat nor deletion or base substitutions. ZNF9 analyses showed that they did not have CCTG expansion in exon13. The presence of such cases suggested that multiple causative genes are involved in myotonic dystrophy. To investigate the olecular processes of neurodegeneration of trinucleotide disorders, the relation of polyQ aggregation and caspase-8 or caspase-12 activation was analyzed using antisera that specifically recognizes activated caspases. These studies suggested that polyQ aggregates induced caspase-12 activation and apoptosis via ER stress.
A family that presented with hemiplegic migrain and late-onset cerebellar ataxia was reported. A missense mutation in CACNA1A gene was detected. This suggested that CACN1A gene is causing a wide-variety of neurodegenerative diseases.

Report

(4 results)
  • 2001 Final Research Report Summary
  • 2000 Annual Research Report
  • 1999 Annual Research Report
  • 1998 Annual Research Report
  • Research Products

    (29 results)

All Other

All Publications (29 results)

  • [Publications] Kouroku Y, Urase K, Fujita E, Momoi MY, et al.: "Detection of activated caspase-3 by a cleavatge site-ddirected antiserum during naturally occurring DRG neuron apoptosis"Biochem. Biophys. Res. Commun.. 247. 780-784 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Igarash H, Momoi MY, Yamagata T, et al.: "Hypertrophic cardiomyopathy in congenital myotonic dystrophy"Pediatric Neurology. 18. 366-369 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Saitoh S, Momoi MY, Yamagata T, et al.: "Clinical and electroencephalographic findings in juvenile DRPLA"Ediatric Neurology. 18. 265-268 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Mukasa T, Momoi T, Momoi MY, et al.: "Activation of caspse-3 apoptotic pathways in skeletal muscle fibers in laminina2-deficient mice"Biochem. Biophys Res Commun. 260. 139-142 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Kouroku Y, fujita E, Jimbo A et al.: "Localization of active form of caspse-8 in mouse L929 cells induced by t treatment of polyglutamine aggregates"Biochem. Biophys. Res. Commun.. 270. 972-977 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Kouroku Y, fujita E, Jimbo A, et al.: "Polyglutamine aggregates stimulate ETR stress signals and caspase-12 activation"Human molecular Genetics. 11. 1505-1515 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Nakamura M, Yamagata T, Momoi MY.: "CACNA1A gene mutation in individuals with familial hemiplegic migraine(FHM) and late-onset pure spinocerebellar ataxiaa(SCA)"Pediatric Neurology. (In press). (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Kouroku Y., Urase K., Fujita E., Momoi MY., et al.: "Detection of activated caspase-3 by a cleavage site-directed antiserum during naturally occurring DRG neuron apoptosis"Biochem Biophys Res Commun. 247. 780-784 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Igarashi H., Momoi MY., Yamagata T., et al.: "Hypertrophic cardiomyopathy in congenital myotonic dystrophy"Pediatric Neurology. 18. 366-369 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Saitoh H., Momoi MY., Yamagata T.: "Clinical and electroencephalographic findings in juvenile DRPLA"Ediatric Neurology. 18. 265-268 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Mukasa T., Momoi T., Momoi MY, et al.: "Activation of caspse-3 apoptotic pathways in skeletal fibers in Iaminina2-deficient mice"Biochem Biophys Res Commun. 260. 139-142 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Kouroku Y., Fujita E., Jimbo A., Mukasa T., Tsuru T., Momoi MY., Momoi T.: "Localization of active form of caspase^8 in mouse L929 cells induced by TNF treatment and polyglutamine aggregates"Biochem Biophys Res Commun. 270. 972-977 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Kouroku Y., Fujita E., Jimbo A., Kikuchi T., Yamagata T., Momoi MY, Kominami E., Kuida K., sakamaki K., Yonehara S., Momoi T.: "Plyglutamine aggregates stimulate ER stress signals and caspase-12 activation"Human Nolecular Genetics. 11. 1505-1515 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] "CACNA1A gene mutation in a large pedigree with hemiplegic migraine and late-onset pure spinocerebellar ataxia"Pediatric Neurology. (in press). (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Saitoh S,Momoi MY, et al.: "A large-scale mitochondorial DNA deletion causing progressive ataxia."Journal of Child Neurology. 13. 573-575 (1998)

    • Related Report
      2000 Annual Research Report
  • [Publications] Mukasa T,Momoi T,Momoi MY.: "Activation of caspase-3 apoptotic oathways in skeletal msucle fibers in laminin a2-deificient mice."Biochem Biophys Res Ciommun. 260. 139-142 (1999)

    • Related Report
      2000 Annual Research Report
  • [Publications] Saitoh S,Momoi MY, et al.: "Single-cell analysis of mitochondorial DNA in patients and a carrier of the tRNA-Leu (UUR) gene mutation."Journal of Intherited Metabolic Disorders.. 22. 608-614 (1999)

    • Related Report
      2000 Annual Research Report
  • [Publications] Ichihashi K,Tano S,Momoi MY.: "Three-dimensional echoencep halography in infants."Neurosonography. 12. 320-325 (1999)

    • Related Report
      2000 Annual Research Report
  • [Publications] Tsuru T,Yamagata T,Momoi MY,Okabe,I.: "Prenatal diagnosis of Lowe syndrome by OCRL1 messenge RNA analusis."Prenatal Diagnosis.. 19. 267-270 (1999)

    • Related Report
      2000 Annual Research Report
  • [Publications] Kouroku Y,Fujita E,Jimbo A,Mukasa T,Tsuru T,Momoi MY,Momoi T.: "Localization of active from of caspase-8 in mouse L929 cells induced by TNF treatment and polyglutamine aggregates."Biochem Biophys Res Ciommun. 270. 972-977 (2000)

    • Related Report
      2000 Annual Research Report
  • [Publications] Mukasa T, Momoi T, Momoi MY.: "Activation of caspase-3 apoptotic pathways in speletal musclefibers in laminin- α2-deficient mice"Biochem. Biophys. Res. Commun.. 260. 139-142 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] Saitoh S, Momoi MY, et al.: "Single cell analysis of mitochondual DNA in patients and a carrier of the tRNA-Leu(UUR) mutation"G, Inher, Metab. Disorders. 22. 608-614 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] Tsuru T, Yamagata T, Momoi MY.: "Prenatal diagnosis of Lowe syndrome by OCRLI messenger RNA analysis"Prenat. Diagn. 19. 269-270 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] Kouroku Y, Fujita E et al.: "Localization of active form of capase-8 in mouse L929 cells induces by TNF treatment and polyglutonine aggregales"Biochem. Biophys. Res Commun. 261(in press). (2000)

    • Related Report
      1999 Annual Research Report
  • [Publications] Saitoh S,Momoi MY,Yamagata T,et al.: "Effects of dichloroacetate in three patients with MELAS" Neurology. 50. 531-534 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Kouroku Y,Urase K,Fujita E,Momoi MY,et al.: "Detection of activated Caspase-3 by a cleavage site-directed antirum during naturally occuring DRG Neurons apoptosis." Biochem.Biophys.Res.Commun. 247. 780-784 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Igarashi H,Momoi MY,Yamagata T,et al.: "Hypertrophic cardiomyopathy in congenital myotonic dystrophy." Padiatric Neurology. 18. 366-369 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Yamagata T,Momoi MY,Murai K,et al.: "Pamipenem-Batamipron and ecreaes in serum valproic acid concentration." thelap Drug Monit. 20. 396-400 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Saitoh S,Momoi MY,Yamagata T,et al.: "Clinical and electroencephalographica findings in juvenile type DRPLA." Pediatric Neurology. 18. 265-268 (1998)

    • Related Report
      1998 Annual Research Report

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Published: 1999-04-01   Modified: 2016-04-21  

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