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Genetic analysis of patients with spinal muscular atrophy

Research Project

Project/Area Number 11670744
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionThe University of Tokyo

Principal Investigator

SAKAKIHARA Youichi  Univ. of Tokyo, Faculty of Medicine, Lecturer, 医学部・附属病院, 講師 (10143463)

Co-Investigator(Kenkyū-buntansha) KUBOTA Masaya  Univ. of Tokyo, Faculty of Medicine, Assistant Professor, 医学部・附属病院, 助手 (90251272)
SAITO Makiko  Univ. of Tokyo, Faculty of Medicine, Assistant Professor, 医学部・附属病院, 助手 (20225733)
柳澤 正義  東京大学, 医学部・附属病院, 教授 (90049031)
Project Period (FY) 1999 – 2001
Project Status Completed (Fiscal Year 2001)
Budget Amount *help
¥3,700,000 (Direct Cost: ¥3,700,000)
Fiscal Year 2001: ¥1,100,000 (Direct Cost: ¥1,100,000)
Fiscal Year 2000: ¥1,100,000 (Direct Cost: ¥1,100,000)
Fiscal Year 1999: ¥1,500,000 (Direct Cost: ¥1,500,000)
Keywordsspinal muscular atrophy / SMN1 / SMN2 / SMN遺伝子 / マイクロサテライトマーカー
Research Abstract

Spinal muscular atrophy (SMA) is a frequent autosomal recessive neurodegenerative disorder with progressive weakness and atrophy of voluntary muscles. The survival motor neuron gene (SMN) is present in two highly homologues copies (SMN 1 and SMN 2) on chromosome 5q13. Homozygous deletion of exons 7 and 8 of SMN 1 is responsible for SMA. In SMA patients, SMN 2 partially compensate the lack of SMN 1. Previously we reported the relative high incidence of large deletion including SMN1 region in Japanese SMA type I patients. The purpose of this study to demonstrate another genetic back ground of Japanese SMA type I patients investigating the the SMN 1 to SMN 2 ratio in carriers. As expected, in normal individuals there is one copy of each gene on a chromosome (SMN1/SMN2 was 1). In this study we determined the SMN1/SMN2 ratios of 14 parents and one carrier sibling of Japanese type I SMA patients with homozygous deletion of exons 7 and 8 of SMN1. We found that the SMN1/SMN2 ratio was 0.5 or 1 in eleven (73.3%) carriers. Residual four carriers had the SMN1/SMN2 ratio of 1/3. This finding supports the idea that the deletion rather than conversion is the main genetic event in type I SMA. For further insight into the characteristic genetic background of SMA in Japan, identification of gene copy number is essential.

Report

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

    (18 results)

All Other

All Publications (18 results)

  • [Publications] Diep Tran T, Kroepfl T, Saito M, Sakakihara Y et al.: "The gene copy ratio of SMN1/SMN2 in Japanese carriers with type I Spiral musclar atrophy"Brain & Development. 23(5). 321-326 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Tran TD, Kubota M, Sakakihara Y et al.: "Varicella-associated acute necrotizing encephalopathy with a good prognosis"Brain & Development. 23(1). 54-57 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Sasaki J, Ishikawa K, Sakakihara Y, Toda T et al.: "Neuronal expression of the fukutin gene"Human Molecular Genetics. 9(20). 3083-3090 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Sakakihara Y: "Medicalcare and support for children with mental retardation in school"No to Hattatsu [Brain & Development]. 32(3). 237-241 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Sakakihara Y: "Ethical attitudes of Japanese physicians regarding life-sustaining treatment for children with severe neurological disabilities"Brain & Development. 22(2). 113-117 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Kubota M, Sakakihara Y, et al.: "New ocular movement detector system as a communication tool in ventilator-assisted Werdnig-Hoffmann disease"Developmental Medicine & Child Neurology. 42(1). 61-65 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Diep Tran T. Kroepfl T. Saito M. Nagura M. Ichiseki H. Kubota M. Toda T. Sakakihara Y.: "The gene copy ratios of SMN1/SMN2 in Japanese carriers with type I spinal muscular atrophy"Brain & Development. 23(5). 321-6 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Tran TD. Kubota M. Takeshita K. Yanagisawa M. Sakakihara Y.: "Vricella-associated acute necrotizing encephalopathy with a good prognosis"Brain & Development. 23(1). 54-7 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Sasaki J. Ishikawa K. Kobayashi K. Kondo-Iida E. Fukayama M. Mizusawa H. Takashima S. Sakakihara Y. Nakamura Y. Toda T.: "Neuronal expression of the fukutin gene"Human Molecular Genetics. 9(20). 3083-90 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Sakakihara Y.: "Medical care and support for children with mental retardation in school"No to Hattatsu [Brain & Development]. 32(3). 237-41 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Sakakihara Y.: "Ethical attitudes of Japanese physicians regarding life-sustaining treatment for children with severe neurological disabilities"Brain & Development. 22(2). 113-7 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Kubota M. Sakakihara Y. Uchiyama Y. Nara A. Nagata T. Nitta H. Ishimoto K. Oka A. Horio K. Yanagisawa M.: "New ocular movement detector system as a communication tool in ventilator-assisted Werdnig-Hoffmann disease"Developmental Medicine & Child Neurology. 42(1). 61-4 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Piep Tran T, Kroepfl. T., Saito M, Sakakihara Y, et al.: "The gene copy ratios of SMN1/SMN2 in Japanese carriers with type I Spinal muscnlar atrephy"Brain & Development. 23(5). 321-326 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] Tran TD, Kubota M, Sakakihara Y. et al.: "Varicella-associated acte necrotizing enchephalopaty with a good prognosis"Brain & Developneut. 23(1). 54-57 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] Sakakihara Y: "[Medical care and support for children with mental retardation in school]"No to Hattatsu [Brain & Development]. 32(3). 237-241 (2000)

    • Related Report
      2001 Annual Research Report
  • [Publications] Sakakihara Y.: "Ethilal attitudes of Japanese physicrans regavding lnfe-su staining treatment for children with severe neutrological disabilities"Brain & Develepment. 22(2). 113-117 (2000)

    • Related Report
      2001 Annual Research Report
  • [Publications] 斉藤真木子: "脊髄筋萎縮症の原因遺伝子SMN"小児科診療. 64・1. 104-105 (2001)

    • Related Report
      2000 Annual Research Report
  • [Publications] Thomas Kroepft, Tran Diop Tuan, Yoich Sakakihara: "High Incidence of Large Scale Relations in Japanese patients in Werdnig-Hoffmann disease"YEARBOOK OF THE SOCIETY FOR CHILD NEUROLOGY "1999/2000 JAHRBUCH DER GESELLSCHAF FUR NEVROPADIATRIE "1999/2000. (in print). (2000)

    • Related Report
      1999 Annual Research Report

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

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