Abnormality of the involvement of glycosylphosphatidylinositol anchor in a peroxisomal disorder.

2012 Fiscal Year Final Research Report

• Project/Area Number: 23790365
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Pathological medical chemistry
• Research Institution: Osaka University
• Principal Investigator: KANZAWA Noriyuki 大阪大学, 微生物病研究所, 特任助教 (40452461)
• Project Period (FY): 2011 – 2012
• Keywords: GPI アンカー / アルキルリン脂質 / ペルオキシソーム病 / 肢根型点状軟骨異形成症 / Zellweger 症候群

Research Abstract

Dysfunction of peroxisome cause peroxisomal disorders. I analyzed the structure of glycosylphosphatidylinositol(GPI) anchor in patients of rhizomelic chondrodysplasia punctate(RCDP) and Zellweger syndrome. These patients are defective in alkyl-acyl form GPI anchor and expressing diacyl form GPI only. The expression levels of GPI-anchored protein increased in the mutant cells of responsible gene of RCDP. I found the involvements between peroxisomal disorders and functions of GPI-anchored protein.

Research Products

• [Journal Article] Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome (2012)
  • Author(s): Murakami Y, Kanzawa N, Saito K, Krawitz PM, Mundlos S, Robinson PN, Karadimitris A, Maeda Y, Kinoshita T
  • Journal Title: J Biol Chem Volume: 287(9) Pages: 6318-25
  • DOI: doi:10.1074/jbc.M111.331090
  • Peer Reviewed
• [Journal Article] Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata (2012)
  • Author(s): Kanzawa N, Shimozawa N, Wanders RJ, Ikeda K, Murakami Y, Waterham HR, Mukai S, Fujita M, Maeda Y, Taguchi R, Fujiki Y, Kinoshita T
  • Journal Title: J Lipid Res Volume: 53(4) Pages: 653-63
  • DOI: doi:10.1194/jlr.M021204
  • Peer Reviewed
• [Presentation] GPI アンカー生合成における脂質リモデリングのアルキル供与体の解明 (2011)
  • Author(s): 神澤 範行, 前田 裕輔, 藤田 盛久, 木下 タロウ
  • Organizer: 第84回 日本生化学会大会
  • Place of Presentation: 京都
  • Year and Date: 20110921-24
• [Presentation] Biosynthesis of GPI-anchored proteins requires peroxisome (2011)
  • Author(s): Kanzawa N, Maeda Y, Ikeda K, Murakami Y, Fujita M, Shimozawa N, Fujiki Y, Taguchi R and Kinoshita T
  • Organizer: 第30回 内藤カンファレンス
  • Place of Presentation: 札幌
  • Year and Date: 20110628-0701
• [Book] 生体の科学「細胞の分子構造と機能 -核以外の細胞小器官- GPI アンカーのリモデリングにおけるペルオキシソームの役割とその異常」 (2012)
  • Author(s): 神澤 範行, 木下タロウ
  • Total Pages: 456-459