Analysis of the Molecular Pathology for the Salidonmide Syndrome

2007 Fiscal Year Final Research Report Summary

• Project/Area Number: 18591150
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Osaka University
• Principal Investigator: SAKAI Norio Osaka University, Graduate School of Medicine, Associate Professor (30314313)
• Co-Investigator(Kenkyū-buntansha): TANIIKE Masto Osaka Univetsty, Graduate School of Medicine, Specially Appointed Professor (30263289)
• Project Period (FY): 2006 – 2007
• Keywords: salidomide / teratogen / Roberts syndrome / ESCO2

Research Abstract

Salidomide is a medicine which has anti-immune effect and anti-inflamation effect. Recently this medicine is applied for the treatment for several diseases. However it is also well-known to show the strong teratogenic effect for the embryo which is called Salidomide syndrome, which mechanism is still unclear. We planed the research to disclose the mechanism of the teratogenic effect of the salidomide. We have experience the molecular cloning of Roberts syndrome which is human genetic disease with phenotype of phocomelia, which resemble to the limb phenotype of salidomide syndrome. We analyze the salidomide died on the expression level of possible target genes using cultured cell line. We found suppressed expression of ESCO2 which is defect in Roberts syndrome which might suggest the part of mechanism of salidomide syndrome. Other research effort proved the cellular biological characteristics of Roberts patient lymphoblasts. They are sensitive to the mitomycine C than normal lymphoblast and has problem in spindle checkpoint. These result might lead the disclosure of salidomide side effect and suggest the treatment to inhibit the teratogenic effect

Research Products

• [Journal Article] Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone. (2008)
  • Author(s): Shimotori M, Maruyama H, Sakai N(9), Gejyo F(31)
  • Journal Title: Hum Mutat 29 Pages: 331-40
  • Description: 「研究成果報告書概要(和文)」より
  • Peer Reviewed
• [Journal Article] Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone (2008)
  • Author(s): Shimotori, M, Maruyama, H, Sakai, N(9), Gejyo, F(31)
  • Journal Title: Hum Mutat 29 Pages: 331-40
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] Involvement of nuclear factor I transcription/replication factor in the early stage of chondrocytic differentiation. (2007)
  • Author(s): Uchihashi T, Kimata M, Tachikawa K, Koshimizu T, Okada T, Ihara-Watanabe M, Sakai N, Kogo M, Ozono K, Michigami T
  • Journal Title: Bone 41 Pages: 1025-35
  • Description: 「研究成果報告書概要(和文)」より
  • Peer Reviewed
• [Journal Article] Involvement of nuclear factor I transcription/replication factor in the early stage of chondrocytic differentiation (2007)
  • Author(s): Uchihashi, T, Kimata, M, Tachikawa, K, Koshimizu, T, Okada, T, Ihara-Watanabe, M, Sakai, N, Kogo, M, Ozono, K, Michigami, T
  • Journal Title: Bone 41 Pages: 1025-35
  • Description: 「研究成果報告書概要(欧文)」より
• [Presentation] Mutation analysis of GNPTAB gene in 24 Japanese Mucolipidosis II and III patients. (2007)
  • Author(s): Otomo T, Muramatsu T, Inui K, Yorifuji T, Nakabayashi H, Ohura T, Yoshino M, Tanaka A, Okuyama T, Ozono K, sakai N
  • Organizer: SSIEM 2007 Annual symposium,
  • Place of Presentation: Germany, Hamburg
  • Year and Date: 20070904-07
  • Description: 「研究成果報告書概要(和文)」より
• [Presentation] Mutation analysis of GNPTAB gene in 24 Japanese Mucolipidosis II and III patients (2007)
  • Author(s): Otomo, T, Muramatsu, T, Inui, K, Yorifuji, T, Nakabayashi, H, Ohura, T, Yoshino, M, Tanaka, A, Okuyama, T, Ozono, K, Sakai, K
  • Organizer: SSIEM 2007 Annual symposium
  • Place of Presentation: Germany, Hamburg
  • Year and Date: 20070904-07
  • Description: 「研究成果報告書概要(欧文)」より