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Molecular analysis of the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis

Research Project

Project/Area Number 07807208
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Human genetics
Research InstitutionKumamoto University

Principal Investigator

INDO Yasuhiro  Kumamoto University Department of Pediatrics, School of Medicine Assistant Professor, 医学部・附属病院, 助手 (40244131)

Project Period (FY) 1995 – 1996
Project Status Completed (Fiscal Year 1996)
Budget Amount *help
¥1,800,000 (Direct Cost: ¥1,800,000)
Fiscal Year 1996: ¥900,000 (Direct Cost: ¥900,000)
Fiscal Year 1995: ¥900,000 (Direct Cost: ¥900,000)
KeywordsCongenital insensitivity to pain with anhidrosis / Nerve growth factor / Nerve growth factor receptor / TRKA / Gene analysis
Research Abstract

Congenital insensitivity to pain with anhidrosis (CIPA ; MIM 256800) is an autosomal-recessive disorder characterized by recurrent episodes of unexplained fever, anhidrosis (absence of sweating) and absence of reaction to noxious stimuli, self-mutilating behavior and mental retardation. The genetic basis for CIPA is unknown. Nerve growth factor (NGF) induces neurite outgrowth and promotes survival of embryonic sensory and sympathetic neurons. Mice lacking the gene for TrkA,a receptor tyrosine kinase for NGF,share dramatic phenotypic features of CIPA,including loss of responses to painful stimuli, although anhidrosis is not apparent in these animals. We therefore considered the human TRKA homologue as a candidate for the CIPA gene. The mRNA and genomic DNA encoding TRKA were analyzed in three unrelated CIPA patients who had consanguineous parents. We detected a deletion-, splice-, and missense-mutation in the tyrosine kinase domain in these three patients. Our findings strongly suggest that defects in TRKA cause CIPA and that the NGF-TRKA system has a crucial role in the development and function of the nociceptive reception as well as establishment of thermoregulation via sweating in humans. These results also implicate genes encoding other TRK and neurotrophin family members as candidates for developmental defect (s) of nervous system.

Report

(3 results)
  • 1996 Annual Research Report   Final Research Report Summary
  • 1995 Annual Research Report
  • Research Products

    (11 results)

All Other

All Publications (11 results)

  • [Publications] Y.Indo et al.: "Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis" Nature Genetics. 13(4). 485-488 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Karim et al.: "Human ESP1/CRP2,a member of the LIM domain protein family : characterization of the cDNA and assignment of the gane locus to chromosome 14832.3" Genomics. 31. 167-176 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Y.Indo and I.Matsuda: "Alpha-Keto Acid Dehydrogenase Compleys(共著)(分担分:21ページ)" Birkhauser Verlag,Basel/Switzerland, 321 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Y.Indo, M.Tsuruta, Y.Hayashida, M.A.Karim, K.Ohta, T.Kawano, H.Mitsubuchi, H.Tonoki, Y.Awaya and I.Matsuda: ""Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis."" Nature Genetics. 13 (4). 485-488 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] M.A.Karim, K.Ohta, M.Egashira, Y.Jinno, N.Niikawa, I.Matsuda and Y.Indo: ""Human ESP1/CRP2, a member of the LIM domain protein family : characterization of the cDNA and assignment oF the gene locus to chromosome 14q34.3"" Genomics. 31. 167-176 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Y.Indo and I.Matsuda: "Molecular defects of the branched-chain alpha-keto acid dehydrogenase complex : maple syrup urine disease due to mutations of the Elalpha or Elbeta subunit gene." In : M.S.Patel, T.E.Roche and R.A.Harris (eds) Alpha-keto acid dehydrogenase complexes. Birkhauser Verlag, Basel, 227-247 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Y.Indo et al.: "Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis" Nature Genetics. 13(4). 485-488 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] Karim et al.: "Human ESPI/CRP2,a member of the LIM domain protein family : characterigation of the cDNA and assignment of the gene locus th chromosome 14g 32.3" Genomics. 31. 167-176 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] Y.Indo and I.Matsuda: "Alpha-Keto Acid Dehydrogenase Complexes(共著)" Birkhauser Verlag Basel/Switzerland, 321(分担分:21ページ) (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] Karim et al.: "Human ESP1/CRP2,a member of the LIM domain protein family : characterization of the cDNA and assignment of the gene locus to chromosome 14q32.3" Genomics. 31. 167-176 (1996)

    • Related Report
      1995 Annual Research Report
  • [Publications] Y.Indo and I.Matsuda: "Alpha-Keto Acid Dehydrogenase Complexes (共著)" Birkhauser Verlag Basel/Switzerland (in press), (1996)

    • Related Report
      1995 Annual Research Report

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Published: 1995-04-01   Modified: 2016-04-21  

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