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2006 Fiscal Year Final Research Report Summary

Molecular biological and electrophysiological studies of inherited retinal degenerations

Research Project

Project/Area Number 17591843
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Ophthalmology
Research InstitutionUniversity of Miyazaki

Principal Investigator

NAOI Nobuhisa  University of Miyazaki, Faculty of Medicine, Professor, 医学部, 教授 (50211412)

Co-Investigator(Kenkyū-buntansha) CHUMAN Hideki  University of Miyazaki, Faculty of Medicine, Associate Professor, 医学部, 助教授 (20244204)
CHUMAN Tomomi  University of Miyazaki, Faculty of Medicine, Instructor, 医学部, 助手 (50320495)
KAWANO Naoko  University of Miyazaki, Faculty of Medicine, Instructor, 医学部, 助手 (00336306)
Project Period (FY) 2008 – 2010
Keywordsretinitis pigmentosa / retinal degeneration / gene analysis / crysralline dystrophy / retinoschisis
Research Abstract

We identified mutations in RPGR and RP2 genes in a series of Japanese retinitis pigmentosa (RP) families and determined the association between the phenotypic changes in patients/carriers and the mutations. A total of 37 unrelated RP families were recruited, three of which were with typical X-linked RP (XLRP), and other 34 families included 29 multiplex families and 5 simplex RP cases with no family history of RP. In addition, At least one RP patient had myopia >-3.0D in these families. Four mutations in RPGR and RP2 genes were identified. Of the three XLRP families, one had an ORF15 mutation and another had an RP2 mutation. Two ORF15 mutations were found in three of the other 34 RP families, with two families sharing a same mutation, g.ORF15+652-653delAG. All the three ORF15 mutations were first reported in the Japanese population. It is suggested that mutational analysis of RPGR and RP2 may help to identify the causative mutation in a proportion of multiplex RP patients with myopia. (Mol Vis. 2003) (Adv Exp Med Biol. 2006)
We also identified CYP4V2 mutations in three unrelated Japanese patients with Bietti crystalline corneoretinal dystrophy (BCD). Direct PCR sequencing demonstrated a homozygous mutation involving a 17-bp deletion together with a 2-bp insertion (c.802-8dell7bp/insGC) in case 1 and case 3, and RT-PCR demonstrated that the complete length of exon 7 was missing; case 2 showed only a heterozygous change in ex on 11 with no second mutation. A homozygous mutation was identified in two of the unrelated patients, and only a heterozygous change was detected in the third. These data indicate that c.802-8dell7bp/insGC may be a frequent mutation in this gene. (Jpn J Ophthalmol. 2006)
We identified a RS1 mutation in a Japanese patient with X-linked juvenile retinoschisis. (Jpn J Ophthalmol. 2007)

  • Research Products

    (14 results)

All 2007 2006 2005

All Journal Article (14 results)

  • [Journal Article] A Novel Truncating Rs1 Mutation Associated With X-Linked Juvenile Retinoschisis Nitric Oxide in Optic Neuritis and Multiple Sclerosis2007

    • Author(s)
      Zi-Bing Jin
    • Journal Title

      Japanese Journal of Ophthalmology 51・1

      Pages: 71-73

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Differential expression of Kir4.1 and aquaporin 4 in the retina from endotoxin-induced uveitis rat2007

    • Author(s)
      Xiao-Qiang Liu
    • Journal Title

      Molecular Vision 13

      Pages: 309-317

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] A Novel Truncating Rs 1 Mutation Associated With X-Linked Juvenile Retinoschisis2007

    • Author(s)
      Jin ZB, Nao-I N
    • Journal Title

      Japanese Journal of Ophthalmology 51・1

      Pages: 71-73

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Differential expression of Kir4.1 and aquaporin 4 in the retina from endotoxin-induced uveitis rat2007

    • Author(s)
      Liu XQ, Kobayashi H, Jin ZB, Wada A, Nao-I N
    • Journal Title

      Molecular Vision 13

      Pages: 309-317

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Clinical and Molecular Findings in Three Japanese Patients with Crystalline Retinopathy2006

    • Author(s)
      Zi-Bing Jin
    • Journal Title

      Japanese Journal of Ophthalmology 50

      Pages: 426-431

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa : identification of four mutations2006

    • Author(s)
      Zi-Bing Jin
    • Journal Title

      Molecular Vision 12

      Pages: 1167-1174

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] RCC1-LIKE DOMAIN AND ORF15 : ESSESTIAL IN RPGR GENE. Chapter of Retinal Degenerative Diseases2006

    • Author(s)
      Zi-Bing Jin
    • Journal Title

      Advances in Experimental Medicine and Biology 571

      Pages: 29-33

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Nitric Oxide in Optic Neuritis and Multiple Sclerosis2006

    • Author(s)
      Hideki Chuman
    • Journal Title

      Journal of Neuro-Ophthalmology 26・2

      Pages: 85-86

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Clinical and Molecular Findings in Three Japanese Patients with Crystalline Retinopathy2006

    • Author(s)
      Jin ZB, Ito S, Saito Y, Inoue Y, Yanagi Y, Nao-i N
    • Journal Title

      Japanese Journal of Ophthalmology 50

      Pages: 426-431

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa : identification of four mutations2006

    • Author(s)
      Jin ZB, Liu XQ, Hayakawa M, Murakami A, Nao-i N, N
    • Journal Title

      Molecular Vision 12

      Pages: 1167-1174

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] RCC1-LIKE DOMAIN AND ORF15 : ESSESTIAL IN RPGR GENE. Chapter of Retinal Degenerative Diseases2006

    • Author(s)
      Jin ZB, Hayakawa M, Murakami A, Nao-i N
    • Journal Title

      Advances in Experimental Medicine and Biology 571

      Pages: 29-33

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Nitric Oxide in Optic Neuritis and Multiple Sclerosis2006

    • Author(s)
      Chuman H
    • Journal Title

      Journal of Neuro-Ophthalmology 26・2

      Pages: 85-86

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Novel deletion spanning RCC1-like domain of RPGR in Japanese X-linked retinitis pigmentosa family2005

    • Author(s)
      Jin ZB, Liu XQ, Uchida A, Vervoort R, Morishita K.Hayakawa M, Murakami A, Matsumoto N, Niikawa N, Nao-i N
    • Journal Title

      Molecular Vision 11

      Pages: 535-541

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Relaxant effect of adrenomedullin on bovine isolated iris sphincter muscle under resting conditions.2005

    • Author(s)
      Uchikawa Y, Okano M, Sawada A, Asada Y, Kobayashi H, Wada A, Nao-i N, Ohkura M, Tanaka N, Yamamoto R
    • Journal Title

      Clinical and experimental pharmacology & physiology 32(8)

      Pages: 675-680

    • Description
      「研究成果報告書概要(欧文)」より

URL: 

Published: 2008-05-27  

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