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Research for hereditary neuropathy caused by desert hedgehog gene mutation

Research Project

Project/Area Number 13670658
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Neurology
Research InstitutionKagoshima University

Principal Investigator

UMEHARA Fujio  Kagoshima University, Graduate School of Medical and Dental Sciences, Assistant professor, 大学院・医歯学総合研究科, 講師 (20271140)

Co-Investigator(Kenkyū-buntansha) OSAME Mitsuhiro  Kagoshima University, Graduate School of Medical and Dental Sciences, Professor, 大学院・医歯学総合研究科, 教授 (10041435)
NAKAGAWA Masanori  Kyoto Prefectural University, Faculty of Medicine, Professor, 医学部, 教授 (50198040)
TATE Genshu  Showa University, Faculty of Medicine, Assistant professor, 医学部, 講師 (10216997)
Project Period (FY) 2001 – 2002
Project Status Completed (Fiscal Year 2002)
Budget Amount *help
¥4,100,000 (Direct Cost: ¥4,100,000)
Fiscal Year 2002: ¥2,000,000 (Direct Cost: ¥2,000,000)
Fiscal Year 2001: ¥2,100,000 (Direct Cost: ¥2,100,000)
KeywordsDesert hedgehog / Gonadal dysgenesis / Hereditary neuropathy / minifascicle / Transgenic mouse / transgenic mice / 性分化異常 / hedgehog / ノックアウト マウス / シュワン細胞
Research Abstract

1) Role of Desert hedgehog in development and differentiation of perineurium
We confirmed expression of mRNA of Desert hedgehog (Dhh), and patched 2 in peripheral nerves of wild type mice. Expression of these molecules decreased after nerve injury, then gradually increased in regenerating phase. These results suggest that Dhh-Patched 2 pathway may play and role of maintenance of perineurium, and regeneration.
2) Role of Dhh in the central nervous system
We have analyzed motor, sensory, memory and emotional function of Dhh knockout mice. As a result, Dhh knockout mice had emotional disorders (depression and anxiety). These results suggest that Dhh may be associated with emotion.
3) Establishment of the new disease concept: Minifascicular neuropathy with gonadal dysgenesis
We found the second case of minifascicular neuropathy with 46, XY gonadal dysgenesis.
4) Dhh transgenic mice
We succeeded in development of Dhh transgenic mice/

Report

(3 results)
  • 2002 Annual Research Report   Final Research Report Summary
  • 2001 Annual Research Report
  • Research Products

    (25 results)

All Other

All Publications (25 results)

  • [Publications] Wataru Matsuyama, Masanori Nakagawa, Takashi Moritoyo, Hiroshi Takashima, Fujio Umehara, Keiko Hirata, Masahito Suehara, Mitsuhiro Osame: "Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant connexin 32(GJB1)"J Hum Genet. 46(6). 307-313 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Masanori Nakagawa, Hiroshi Takashima, Fujio Umehara, Kimiyoshi Arimura, K.Miyashita, Norihiro Takenouchi, Wataru Matsuyama, Mitsuhiro Osame: "Clinical phenotype in X-linked Charcot-Marie-Tooth disease with an entire deletion of the connexin 32 coding sequence"J Neurol Sci. 119. 31-37 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] K.Unoki, Y.Sakamoto, N.Ohba, T.Kiwaki, Fujio Umehara, Y.Isashiki, M.Nakagawa, M.Osame: "Hereditary motor and sensory neuropathy associated with juvenile glaucoma"Arch Opthalmol. 119. 1547-1550 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Fusako Usuki, A.Yasutake, Fujio Umehara, H.Tokunaga, M.Matsumoto, K.Eto, S.Ishiura, Itsuro Higuchi: "In vivo protection of a water-soluble derivative of vitamin E, Trolox, against methylmercury-intoxication in the rat"Neurosci Lett. 25;304. 199-203 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Fujio Umehara, Kayoko Itoh, Kumiko Michizono, Mayumi Abe, Shuji Izumo, Mitsuhiro Osame: "Fas/Fas-ligand expression in the spinal cords of HTLV-I associated myelopathy"Acta Neuropathol. 103. 384-390 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Sugie K, Futamura N, Suzumura A, Tate G, Umehara F.: "Hereditary motor and sensory neuropathy with minifascicle formation in a patient with 46XY pure gonadal dysgenesis : a new clinical entity"Ann Neurol. 51. 385-388 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Wataru Matsuyama, Masanori Nakagawa, Takashi Morimoto, Hiroshi Takashima, Fujio Umehara, Keiko Hirata, Masahito Suehara, Mitsuhiro Osame: "Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant connexin 32 (GJB1)"J Hum Genet. 46. 307-313 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Masanori Nakagawa, Hiroshi Takashima, Fujio Umehara, Kimiyoshi Arimura, K. Miyashita, Norihiro Takenouchi, Wataru Matsuyama, Mitsuhiro Osame: "Clinical phenotype in X-linked Charcot-Marie-Tooth disease with an entire deletion of the connexin 32 coding sequence"J Neuro Sci. 119. 31-37 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] K. Uoki, Y. Sakamoto, N. Ohta, T. Kiwaki, Fujio Umehara, Y. Isashiki, M. Nakagawa, M. Osame: "Hereditary motor and sensory neuropathy associated with juvenile glaucoma"Arch Opthalmol. 119. 1547-1550 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Fusako Usuki, A. Yasutake, Fujio Umehara, H. Tokunaga, M. Matsumoto, K. Eto, S. Ishiura, Itsuro Higuchi: "In vivo protection of a water-soluble derivative of vitamin E, Trolox, against methylmercury-intoxication in the rat"Neurosci Lett. 25. 199-203 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Fujio Umehara, Kayoko Itoh, Kumiko Michizono, Mayumi Abe, Shuji Izumo, Mitsuhiro Osame: "Fas/Fas-ligand expression in the spinal cords of HTLV-I associated myelopathy"Acta Neuropathol. 103. 384-390 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Sugie K, Futamura N, Suzumura A, Tate G, Umehara F: "Hereditary motor and sensory neuropathy with minifascicle formation in a patient with 46XY pure gonadal dysgenesis: a new clinical entity"Ann Neurol. 51. 385-388 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Umehara F, Tate G, Itoh K, Osame M: "Minifascicular neuropathy - a new concept of the human disease caused by desert hedgehog gene mutation"Cell Mol Biol. 51. 187-189 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Wataru Matsuyama, Masanori Nakagawa, Takashi Moritoyo, Hiroshi Takashima, Fujio Umehara, Keiko Hirata, Masahito Suehara, Mitsuhiro Osame: "Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant connexin 32 (GJB1)"J Hum Genet. 46(6). 307-313 (2001)

    • Related Report
      2002 Annual Research Report
  • [Publications] Masanori Nakagawa, Hiroshi Takashima, Fujio Umehara, Kimiyoshi Arimura, K. Miyashita, Norihiro Takenouchi, Wataru Matsuyama, Mitsuhiro Osame: "Clinical phenotype in X-linked Charcot-Marie-Tooth disease with an entire deletion of the connexin 32 coding sequence"J Neurol Sci. 15;185(1). 31-37 (2001)

    • Related Report
      2002 Annual Research Report
  • [Publications] K.Unoki, Y.Sakamoto, N.Ohba, T.Kiwaki, Fujio Umehara, Y.Isashiki, M.Nakagawa, M.Osame: "Hereditary motor and sensory neuropathy associated with juvenile glaucoma"Arch Opthalmol. 119. 1547-1550 (2001)

    • Related Report
      2002 Annual Research Report
  • [Publications] Fusako Usuki, A.Yasutake, Fujio Umehara, H.Tokunaga, M.Matsumoto, K.Eto, S.Ishiura, Itsuro Higuchi: "In vivo protection of a water-soluble derivative of vitamin E, Trolox, against methylmercury-intoxication in the rat"Neurosci Lett. 25;304(3). 199-203 (2001)

    • Related Report
      2002 Annual Research Report
  • [Publications] Fujio Umehara, Kayoko Itoh, Kumiko Michizono, Mayumi Abe, Shuji Izumo, Mitsuhiro Osame: "Fas/Fas-ligand expression in the spinal cords of HTLV-I associated myelopathy"Acta Neuropathol. 103. 384-390 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] Sugie K, Futamura N, Suzumura A, Tate G, Umehara F.: "Hereditary motor and sensory neuropathy with minifascicle formation in a patient with 46XY pure gonadal dysgenesis : a new clinical entity"Ann Neurol. 51. 385-388 (2001)

    • Related Report
      2002 Annual Research Report
  • [Publications] Umehara F, Tate G, Itoh K, Osame M.: "Minifascicular neuropathy : a new concept of the human disease caused by desert hedgehog gene mutation"Cell Mol Biol. 51. 187-189 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] 楯玄秀, 梅原藤雄: "ヒトDesert Hedgehog遺伝子異常と末梢神経・性腺の形成異常"遺伝子医学. 5. 265-272 (2001)

    • Related Report
      2002 Annual Research Report
  • [Publications] 梅原 藤雄: "ブレイン・サイエンスレビュー"医学書院(印刷中).

    • Related Report
      2002 Annual Research Report
  • [Publications] Sugie K, Futamura, Suzumura A, Tate G, Umehara F: "Hereditary motor and sensory neuropathy with minifascicle formation in a patient with 46XY pure gonadal dysgenesis : a new clinical entity"Annals of Neurology. (in press).

    • Related Report
      2001 Annual Research Report
  • [Publications] Umehara F, Tate G, Itoh K, Osame M: "Minifascicular neuropathy : a new concept of human disease caused by Desert Hedgehog gene mutation"Cellular and Molecular Biology. (in press).

    • Related Report
      2001 Annual Research Report
  • [Publications] 楯玄秀, 梅原藤雄: "ヒトDesert hedgehog遺伝子異常と末梢神経・性腺の形成異常"遺伝子医学. 5・2. 265-272 (2001)

    • Related Report
      2001 Annual Research Report

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Published: 2001-04-01   Modified: 2016-04-21  

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