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モヤモヤ病の遺伝子解析

Research Project

Project/Area Number 10470295
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Cerebral neurosurgery
Research InstitutionKYUSHU UNIVERSITY

Principal Investigator

MATSUSHIMA toshio  Kyushu University, Graduate School of Medicine, Associated Professor, 大学院・医学系研究科, 助教授 (40165816)

Co-Investigator(Kenkyū-buntansha) IKEZAKI Kiyonobu  Kyushu University, Faculty of Medicine, Assistant Professor, 医学部, 講師 (10145360)
Project Period (FY) 1998 – 1999
Project Status Completed (Fiscal Year 1999)
Budget Amount *help
¥11,700,000 (Direct Cost: ¥11,700,000)
Fiscal Year 1999: ¥5,200,000 (Direct Cost: ¥5,200,000)
Fiscal Year 1998: ¥6,500,000 (Direct Cost: ¥6,500,000)
Keywordsmoyamoya disease / HLA / Genetic abnormality
Research Abstract

1. Linkage study
In the 19th families affected by moyamoya disease, blood samples was obtained from all members of the family. Microsatellite markers on the 6th chromosome were amplified by using polymerase chain reaction. Sharing of the allele was investigated among affected members, considering the haplotype. The marker, D6S441 had a possible linkage with moyamoya disease. Thus, around the D6S441, responsible gene for moyamoya disease might be located. Another institute analyzed and reported that chromosome 3 was linked to moyamoya disease. According to clinical genetics, moyamoya disease shows multifactorial inheritance. Further analysis might show other region linked to moyamoya disease.
2. Polymorphisms of TGFB1 and TGFBR 2 genes
Recent studies have shown increased production of serum transforming growth factor (TGF)βィイD21ィエD2 and its mRNA level from cultured smooth muscle cells in patients with Moyamoya disease. TGF-β signaling system has been suggested to be associated with the pathogenesis of Moyamoya disease. We analyzed the polymorphisms of TGFB1 and TGFBR 2 genes in 61 Moyamoya patients. Our study has shown that there were no associations between Moyamoya disease and polymorphisms of TGFB1/TGFBR 2 genes. Thus, it is likely that increases of TGFβ1 in serum and vascular smooth muscle cells were not primary but secondary events in Moyamoya disease.
3. Renin-angiotensin system
The plasma levels of renin, angiotensin I, and angiotensin II were investigated in 48 Moyamoya patients. The level of angiotensin I was markedly elevated in the patients. It was not clear whether this increase was primary or secondary. Further investigation is needed to clarify the fact.

Report

(3 results)
  • 1999 Annual Research Report   Final Research Report Summary
  • 1998 Annual Research Report
  • Research Products

    (23 results)

All Other

All Publications (23 results)

  • [Publications] Inoue TK et al: "Linkage analysis moyamoya disease on chromosome 6"Journal of child neurology. (in press).

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Ueno M et al: "Moyamoya disease and Transfornming Growth Factor- b1"Journal of neurosurgery. (in press).

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] 福井 仁士 他: "モヤモヤ病における脳虚血の_1H-MRSによる推定-PETとの太対比"厚生省特定疾患ウイリス動脈輪閉塞症調査研究班平成10年度研究報告書、福内靖男(編). 31-36 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] 岩松 雅子 他: "Hirschsproung病に合併したウイルス動脈輪閉塞症患者におけるエンドセリンB受容体遺伝子の解析"東京女子医科大学雑誌. 69. 112-117 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Ikezaki K et al: "Rational approach to treatment of moyamoya disease in childhood"J. Child Neurology 15. (in press).

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Yamauchi T et al: "Linkage of familial moyamoya disease (spontaneous occulusion of the circle of Willis) to chromosome 17q25"Stroke. (in press).

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Matsushima T et al: "Multiple combined indirect procedure for the surgical treatment of children with moyamoya disease. A comparision with single indirect anastomosis with direct anastomosis"Neuro Focus Article. 5. 1-5 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Inoue TK et al: "Linkage analysis moyamoya disease on chromosome 6"Journal of child neurology. (in press).

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Ueno M et al: "Moyamoya disease and Transforming Growth Factor-βィイD21ィエD2"Journal of neurosurgery. (in press).

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Ikezaki K et al: "Rational approach to treatment of moyamoya disease in childhood"J Child Neurology. 15 (in press).

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Yamauchi T et al: "Linkage of familial moyamoya disease (Idiopathic occlusion of the circle of Willis) to chromosome 71q25"Stroke. (in press).

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Fukui M, et al: "Evaluation of cerebral ischemia in moyamoya disease by proton MR spectroscopy-correlation with PET"The Research Committee on Spontaneous Occlusion of the Circle of Willis (Moyamoya Disease) of the Ministry of Health and Welfare, Annual Report 1998. 31-36 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Matsushita T et al: "Multiple combined indirect procedure for the surgical treatment of children with moyamoya disease. A comparison with single indirect anastomosis with direct anastomosis"Neuro Focus Article. 5. 1-5 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Iwamatsu M et al: "Case report of Hirschsprung disease associated with occlusion of Willis arterial circle : Analysis of endothelin B receptor"Tokyo women's medical university. 69. 112-117 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Inoue TK et al: "Linkage analysis moyamoya disease on chromosome 6"Journal of child neurology. (in press).

    • Related Report
      1999 Annual Research Report
  • [Publications] Ueno M et al: "Moyamoya disease and Transfornming Growh Factor-β_1"Journal of neurosurgery. (in press).

    • Related Report
      1999 Annual Research Report
  • [Publications] Ikezawa K et al: "Rational approach to treatment of moyamoya disease in childhood"J.Child Neurology15. (in press).

    • Related Report
      1999 Annual Research Report
  • [Publications] Yamauchi T et al: "Linkage of familial moyamoya disease(spontaneous occulusion of the circle of Willis)to chromosome 17q25"Stroke. (in press).

    • Related Report
      1999 Annual Research Report
  • [Publications] 福井 仁士 他: "モヤモヤ病における脳虚血の_1H-MRSによる推定-PETとの太対比"厚生省特定疾患ウイリス動脈輪閉塞症調査研究班平成10年度研究報告書、福内靖男(編). 31-36 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] Matsushima T et al: "Multiple combined indirect procedure for the surgical treatment of children with moyamoya disease,A comparison with single indirect anastomosis with direct anastomosis"Neuro Focus Article. 5. 1-5 (1998)

    • Related Report
      1999 Annual Research Report
  • [Publications] 岩松 雅子 他: "Hirschsproung病に合併したウイリス動脈輪閉塞症患者におけるエンドセリンB受容体遺伝子の解析"東京女子医科大学雑誌. 69. 112-117 (1998)

    • Related Report
      1999 Annual Research Report
  • [Publications] Inoue T et al: "DNA typing of HLA in the patients with Moyamoya disease." Jpn J Human Genet. 42. 507-515 (1997)

    • Related Report
      1998 Annual Research Report
  • [Publications] Inoue T et al: "Analysis of class II genes of human leukocyte antigen in patients with Moyamoya disease." Clin Neurol Neurosurg. 99. 234-237 (1997)

    • Related Report
      1998 Annual Research Report

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Published: 1998-04-01   Modified: 2016-04-21  

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