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Clinical and basic scientific investigation of spinal muscular atrophy towards the elucidation of disease mechanism and the development of therapy

Research Project

Project/Area Number 12470173
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionTokyo Women's Medical University of School of Medicine

Principal Investigator

SAITO Kayoko  Tokyo Women's Medical University, Pediatrics, Professor, 医学部, 教授 (90138834)

Co-Investigator(Kenkyū-buntansha) MAEDA Yumi  Tokyo Women's Medical University, Pediatrics, Assistant, 医学部, 助手 (40287339)
IIDA Eri  Tokyo Women's Medical University, Pediatrics, Assistant, 医学部, 助手 (40281406)
ITO Mayuri  Tokyo Women's Medical University, Pediatrics, Assistant, 医学部, 助手 (00366303)
中野 和俊  東京女子医科大学, 医学部, 講師 (00172362)
池谷 紀代子  東京女子医科大学, 医学部, 講師 (70151313)
伊藤 康  東京女子医科大学, 医学部, 助手 (10307530)
Project Period (FY) 2000 – 2003
Project Status Completed (Fiscal Year 2003)
Budget Amount *help
¥13,400,000 (Direct Cost: ¥13,400,000)
Fiscal Year 2003: ¥2,200,000 (Direct Cost: ¥2,200,000)
Fiscal Year 2002: ¥2,100,000 (Direct Cost: ¥2,100,000)
Fiscal Year 2001: ¥2,500,000 (Direct Cost: ¥2,500,000)
Fiscal Year 2000: ¥6,600,000 (Direct Cost: ¥6,600,000)
KeywordsSpinal muscular atrophy / SMN gene / SERF1 gene / NAIP gene / Hybrid gene / RT-PCR / DNA sequencing / Gene conversion / 病理学的解析 / アポトーシス / Bcl-2 / mRNA / SMN遺伝子(SMNt) / 臨床的重症度 / 転写産物 / 遺伝子転換 / SMNc
Research Abstract

Spinal muscular atrophy (SMA) is an autosomal recessive disorder, classified into three types. The SMN (survival motor neuron) gene has been identified as a SMA-determining gene, designated SMNt and SMNc. Although the etiology of SMA is regarded as deletion of SMNt, the severity of clinical symptom is different among three types, and they show the same deletion of SMNt. In order to elucidate the basis of clinical variation, we analyzed the DNA and mRNA of the SMN gene in the Japanese 29 SMA patients. A large gene deletion including SMN and other genes as recognized in severe clinical type. We detected a hybrid gene, the products of gene conversion from SMNt to SMNc. Hybrid genes were found by a total nine patients, only in type II and III. We also performed sequence analysis of the cloned RT-PCR products of SMN exons 6,7 and 8. We obtained telomeric sequence of exon 7 of one patient. It suggests that sequence conversion replacing SMNc with SMNt may have occurred at mRNA level in this patient. In conclusion, deletion of the SMNt and the modifier genes made the phenotype more severe, and partial gene conversion event was the explanation for the milder phenotype.

Report

(5 results)
  • 2003 Annual Research Report   Final Research Report Summary
  • 2002 Annual Research Report
  • 2001 Annual Research Report
  • 2000 Annual Research Report
  • Research Products

    (36 results)

All Other

All Publications (36 results)

  • [Publications] 斎藤 加代子: "脊髄性筋萎縮症の臨床と遺伝子"小児神経の進歩2004. 33集(印刷中). (2004)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Ito M, Saito K, et al.: "Phenotvoe-Genotvpe correlation in Japanese spinal muscular atrophy patients : Analysis of DMA and mRNA of the SMN gene."Tokyo Wom Med Univ.. 74(印刷中). (2004)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] 斎藤 加代子: "脊髄性筋萎縮症の分子遺伝学"Annual Review神経2004. 260-268 (2004)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] 斎藤 加代子: "胎生期に発生した疾患の遺伝カウンセリングと予後.中枢神経・筋"周産期医学. 33. 1067-1101 (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] 斎藤 加代子: "神経筋疾患-疾患原因遺伝子の解明"医学のあゆみ「小児医療の最前線」. 206・9. 555-559 (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] 斎藤 加代子: "変性・代謝性疾患"小児神経学の進歩. 32集. 127-128 (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] 斎藤 加代子: "筋ジストロフィーの遺伝.筋疾患の子育てQ&A"遺伝子性筋疾患児を抱える親への子育て支援研究委員会(編). 22-27 (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] 斎藤 加代子(監修): "SMA(脊髄性筋萎縮症)ってなに?"SMA(脊髄性筋萎縮症)家族の会発行. 79 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Saito K.: "Clinical and molecular genetic characteristics of spinal musucular atrophy"Development in Pediatric Neurology. (in press). (2004)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Ito M, Saito K et al.: "Phenotype-Genotype correlation in Japanese spinal muscular atrophy patients : Analysis of DNA and mRNA of the SMN gene."J Tokyo Wom Med Univ.. 74(in press). (2004)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Saito K.: "Molecular genetics of spinal muscular atrophy"Annual Review (nerve) (in Japanese). 260-268 (2004)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Saito K.: "Genetic counseling and prognosis of disease with fetal onset."Perinatal Medicine (in Japanese). 33. 1097-1101 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Saito K.: "Neuromuscular disorders, Discovery of disease responsible genes."J Clinical and Experimental Medicine (in Japanese). 206. 555-559 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Saito K.: "Degenerative diseases and Metabolic disorders."Development in Pediatric Neurology. 32. 127-128 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Kato Z, Saito K et al.: "Spinal muscular atrophy type 1 with anti-acetylcholine receptor antibody."Eur J Pediatr. 161. 293-294 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] 斎藤 加代子: "脊髄性筋萎縮症の臨床と遺伝子"小児神経の進歩2004. 33集(印刷中). (2004)

    • Related Report
      2003 Annual Research Report
  • [Publications] Ito M, Saito K, et al.: "Phenotype-Genotype correlation in Japanese spinal muscular atrophy patients : Analysis of DNA and mRNA of the SMN gene."Tokyo Wom Med Univ.. 74(印刷中). (2004)

    • Related Report
      2003 Annual Research Report
  • [Publications] 斎藤 加代子: "脊髄性筋萎縮症の分子遺伝学"Annual Review神経2004. 260-268 (2004)

    • Related Report
      2003 Annual Research Report
  • [Publications] 斎藤 加代子: "胎生期に発生した疾患の遺伝カウンセリングと予後.中枢神経・筋"周産期医学. 33. 1097-1101 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] 斎藤 加代子: "神経筋疾患-疾患原因遺伝子の解明"医学のあゆみ「小児医療の最前線」. 206・9. 555-559 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] 斎藤 加代子: "変性・代謝性疾患"小児神経学の進歩. 32集. 127-128 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] 斎藤 加代子: "筋ジストロフィーの遺伝.筋疾患の子育てQ&A"遺伝子性筋疾患児を抱える親への子育て支援研究委員会(編). 22-27 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] 斎藤 加代子(監修): "SMA(脊髄性筋萎縮症)ってなに?"SMA(脊髄性筋萎縮症)家族の会発行. 79 (2002)

    • Related Report
      2003 Annual Research Report
  • [Publications] 斎藤 加代子: "球脊髄性筋萎縮症"日本臨牀 領域別症候群シリーズNo.34先天異常症候群辞典. 下巻. 223-224 (2001)

    • Related Report
      2002 Annual Research Report
  • [Publications] 斎藤 加代子: "脊髄性筋萎縮症"日本臨牀 領域別症候群シリーズNo.34先天異常症候群辞典. 下巻. 672-674 (2001)

    • Related Report
      2002 Annual Research Report
  • [Publications] 斎藤加代子, 伊藤万由里: "脊髄性筋萎縮症の臨床と分子遺伝学"東京女子医科大学雑誌. 70. E2-E9 (2000)

    • Related Report
      2002 Annual Research Report
  • [Publications] 斎藤加代子, 宍倉啓子: "脊髄性筋萎縮症[I型、II型]"日本臨牀 領域別症候群シリーズNo.27神経症候群-その他の神経疾患を含めて-. 364-369 (1999)

    • Related Report
      2002 Annual Research Report
  • [Publications] 斎藤 加代子: "球脊髄性筋萎縮症"日本臨牀 領域別症候群シリーズNo.34 先天異常症候群辞典. (下巻). 223-224 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] 斎藤 加代子: "脊髄性筋萎縮症"日本臨牀 領域別症候群シリーズNo.34 先天異常症候群辞典. (下巻). 672-674 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] 斎藤加代子, 伊藤万由里, ら: "脊髄性筋萎縮症の臨床と分子遺伝学"東京女子医科大学雑誌. 70. E2-E9 (2000)

    • Related Report
      2001 Annual Research Report
  • [Publications] 斎藤加代子, 宍倉啓子, ら: "脊髄性筋萎縮症[I型、II型]"日本臨牀 領域別症候群シリーズNo.27 神経症候群-その他の神経疾患を含めて-. 364-369 (1999)

    • Related Report
      2001 Annual Research Report
  • [Publications] 斉藤加代子 他: "脊髄性筋萎縮症の臨床と分子遺伝学"東京女子医科大学雑誌. 70. 2-9 (2000)

    • Related Report
      2000 Annual Research Report
  • [Publications] 斎藤加代子 他: "骨格筋の細胞膜とその異常"膜. 25.4. 163-165 (2000)

    • Related Report
      2000 Annual Research Report
  • [Publications] 斎藤加代子 他: "脊髄性筋萎縮症"神経筋疾患 遺伝子診断ハンドブック. 143-153 (1999)

    • Related Report
      2000 Annual Research Report
  • [Publications] 斎藤加代子 他: "神経症候群,脊髄性筋萎縮症[I型.II型]"日本臨床. 別冊. 364-370 (1999)

    • Related Report
      2000 Annual Research Report
  • [Publications] 斎藤加代子: "小児神経学-最近の展望"小児神経学の進歩. 29. 144-145 (2000)

    • Related Report
      2000 Annual Research Report

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Published: 2000-04-01   Modified: 2016-04-21  

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