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Molecular Biological Research for Retinitis Pigmentosa

Research Project

Project/Area Number 05454468
Research Category

Grant-in-Aid for General Scientific Research (B)

Allocation TypeSingle-year Grants
Research Field Ophthalmology
Research InstitutionTohoku University

Principal Investigator

NAKAZAWA Mitsuru  Tohoku Univ. School of Med. , Dept. of Ophthalmology Assistant Professor, 医学部・附属病院, 講師 (80180272)

Co-Investigator(Kenkyū-buntansha) CHIDA Yasushi  Tohoku Univ. School of Med. , Dept of Ophthalmology Instructor, 医学部・附属病院, 助手 (70250777)
TAMAI Makoto  Tohoku Univ. School of Med. , Dept of Ophthalmology Professor and head, 医学部, 教授 (90004720)
Project Period (FY) 1993 – 1994
Project Status Completed (Fiscal Year 1994)
Budget Amount *help
¥6,600,000 (Direct Cost: ¥6,600,000)
Fiscal Year 1994: ¥2,600,000 (Direct Cost: ¥2,600,000)
Fiscal Year 1993: ¥4,000,000 (Direct Cost: ¥4,000,000)
KeywordsRetinitis pigmentosa / peripherin / RDS gene / rhoclopsin gene / limkage analysis / ペリフェリン / RDS遺伝子 / 杆体錐体変性 / 錐体杆体変性
Research Abstract

Retinitis Pigmentosa (RP) is a group of hereditary disorders which show bilateral progressive loss of visual acuity and visual field, and night blindness. This is the third most frequent cause (12%) of legal blindness among adult Japanese population. Because of its hereditary nature, researches at the level of genes should be necessary to obtain better understandings of the mechanism of pathogenesis of RP,so that we can specifically design better or more effective modalities of treatment than what we have now.
In this study project, we have performed molecular genetic researches for RP,especially studies for detecting gene abnormalities in Japanese patients with RP.
As the first project, we searched for mutations within the rhodopsin gene and the peripherin/RDS gene in Japanese patients with autosomal dominant RP (adRP) and allied deseases. We employed nonradiosotopic SSCP method that had been established in our past research project (Grant-in-Aid for Scientific Research, B-O354411) to detect putative mutations. To date, we have detected a point mutation in codon 347 (Pro347Leu) in the rhodopsin gene. We also have identified 5 different mutations in the peripherin/RDS gene, and they were Asn244Lys, Asn244His, Tyr184Ser, Arg172Trp, and Val200Glu, respectively. Studies for genotype-phenotype correlation have revealed that Asn244Lys causes rod-cone dystrophy, while Asn244His, Tyr184Ser, and Val200Glu cause cone-rod dystrophy, and Arg172Trp is responsible for macular dystrophy.
As the second part, we have perfoumed linkage analysis for a large family with adRP using several genetic markers. As a result, a positive linkage was obtained between the desease gene and the locus on chromosome 19q (D19S180, Zmax=5.110). Further molecular genetic study will clarify a candidate gene for this locus.

Report

(3 results)
  • 1994 Annual Research Report   Final Research Report Summary
  • 1993 Annual Research Report
  • Research Products

    (35 results)

All Other

All Publications (35 results)

  • [Publications] Nakazawa,M,et al.: "Ocular findings in patients with autosomal dominant retinitis pigmentosa and transversion mutation in codon244(Asn244Lys)of the peripherin/RDS gone" Archives of Ophthalmology. 112. 1567-1573 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Nakazawa,M,et al.: "Asn244His mutation of the peripherin/RDS gone causing autosomal dominant cone-rod degeneration" Human Molecular Genetics. 3. 1195-1196 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Kikawa,E,Nakazawa,M,et al.: "A novel mutation(Asn244Lys)in the peripherin/RDS gone causing autosomal dominant retirutis pigmentosa with bulls-eye maculopothy delectel by sscp" Genomics. 20. 137-139 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Nakazawa,M,et al.: "Genotype-prenetype correlation in autosomal dominant retirutis pigmentosa(ADRP)with diffrent amino acid changes of the peripherin/RDS" Investigative Ophthalmology and Visual Science. 35. 1474-1474 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Kikawa,E,Nakazawa,M,et al.: "Novel mutations in the peripherin/RDS gone associated with autosomal dominont retiritis pigmentosa found in Japanese patients" Investigative Ophthalmology and Visual Science. 35. 1715-1715 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Nakazawa,M,et al.: "Phenotypic characteristics of Japanese family with aotosomal dominont retiritis pigmentosa closely linked to chromosome 19q" Investigative Ophthalmology Visual Science. 36(印刷中). (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Nakazawa,M,et al.: "Retinal Degeneration II (分担)" Plenum Publishing Corporation, 400(10) (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] 中沢 満: "眼科学大系10A,眼の発生と遺伝(分担)" 中山書店, 250(10) (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Nakazawa M,Kimizuka Y,Watabe T,Kato K,Watanabe H,Yamanobe S,Arakawa A,Tamai M: "Visual outcome after vitrectomy for diabetic retinopathy" A five-year follow-up. Acta Ophthalmol. 71. 219-223 (1993)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Nakazawa M,Kimizuka Y,Wababe T,Kato K,Watanabe H,Yamanobe S,Arakawa A,Tamai M: "Visual outcome after vitrectomy for diabetic retinopathy : Five-year follow-up" Ophthalmology Digest. 8. 23-24 (1993)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Nakazawa M,Kikawa E,Chida Y,Shiono T,Tamai M: "Nonradioactive single strand conformation polymorphism (PCR-SSCP) : Asimplified method applied to a molecular genetic screening of retinitis pigmentosa. In (Hollyfield JG,LaVail MM,Anderson RE,eds) Retinal Degeneration : Clinical and Laboratory Applications" Plenum Publishing Corp, New York. 181-188 (1993)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Kikawa E,Nakazawa M,Chida Y,Shiono T,Tamai M: "A novel (Asn244Lys) mutation in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP" Genomics. 20. 137-139 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Nakazawa M,Kikawa E,Chida Y,Shiono T,Tamai M: "Genotype-phenotype correlation in autosomal dominant retinitis pigmentosa (ADRP) with different amino acid changes of the peripherin/RDS" Invest Ophthalmol Vis Sci. 35. 1479 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Kikawa E,Nakazawa M,Chida Y,Shiono T,Tamai M: "Novel mutations in the peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa (ADRP) found in Japanese patients" Invest Ophthalmol Vis Sci. 35. 1715 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Nakazawa M,Kikawa E,Chida Y,Tamai M: "Asn244His mutation of the peripherin/RDS gene causing autosomal dominant cone-rod degeneration" Hum Mol Genet. 3. 1195-1196 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Nakazawa M,Kikawa E,Kamio K,Chida Y,Shiono T,Tamai M: "Ocular findings in patients with autosomal dominant retinitis pigmentosa and transversion mutation in codon244 (Asn244Lys) of the peripherin/RDS gene" Arch Ophthalmol. 112. 1567-1573 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Nakazawa M,Kikawa E,Chida Y,Kamio K,Wada Y,Shiono T,Tamai M: "Genotype-phenotype corrlation in autosomal dominant retinal degeneration with mutations in the peripherin/RDS gene" In (Anderson RE,Hollyfield JG,LaVail MM,eds) Retinal Degeneration II,Plenum Publishing Corp, New York. (in press).

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Ishikawa S,Nakazawa M,Ishikawa A,Ishiguro S,Tamai M: "Alteration of glutamine concentration in the vitreous humor in patients with proliferative vitreoretinopathy" Current Eye Res. 14 (in press). (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Nakazawa M,Xu S,Gal A,Tamai M: "Phenotypic characteristics of a Japanese family with autosomal dominant retinitis pigmentosa closely linked to chromosome 19q" Invest Ophthalmol Vis Res. 36 (ARVO) , (in press). (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Nakazawa,M.,et al: "Ocularfindings in patients with autosomal dominant rethinitis pigmentosa and transversion mutation in codon244(Asn244Lys)of the peripherin/RDS gene" Archives of Ophthalmology. 112. 1567-1573 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] Nakazawa,M.,et al: "Asn244His mutation of the peripherin/RDS gene causing autosomal dominant cone-rod degeneration" Human Molecular Genetics. 3. 1195-1196 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] Kikawa,E.Nakazawa,M.et al: "A novel mutation(Asn244Lys)in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by SSCP." Genomics. 20. 137-139 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] Nakazawa,M.,et al: "Genotype-phenatype correlation in autosomal dominant retrictis pigmentosa(ADRP) with different amino acid changes of the peripherin/RDS." Investigative Ophtholmology and Visual Science. 35. 1474-1474 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] Kikawa,E.Nakazawa,M.et al: "Novel mutations in the peripherin/RDS gene associated with autosomal dominant retiritis pigmentosa found in Japanese patients" Investigative Ophtholmology and Visual Science. 35. 1715-1715 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] Nakazawa,M.,et al: "Phenotypic characteristics of Japanese family with autosomal dominant retiritis pigmentosa closely linked to chromosome 19q" Investigative Ophtholmology and Visual Science. 36(印刷中). (1995)

    • Related Report
      1994 Annual Research Report
  • [Publications] Nakazawa,M.,et al: "Retinal Degeneration II(分担)" Plenum Publishing Corporation, 400(10) (1995)

    • Related Report
      1994 Annual Research Report
  • [Publications] 中沢 満: "眼科学大系10A.眼の発生と遺伝(分担)" 中山書店, 250(10) (1995)

    • Related Report
      1994 Annual Research Report
  • [Publications] 中沢満: "網膜色素変性症の分子生物学的研究" 日本眼科学会雑誌. 97. 1394-1405 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] Nakazawa,M.,Kimizuka,Y.,et al.: "Visual outcome after vitrectomy for diabetic retinopathy.A five-year follow-up" Acta Ophthalmologica. 71. 219-223 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] Kikawa,E,Nakazawa,M et al: "A novel(Asn244Lys)mutation in the peripherin/RDS gene causing autosomal dominont retinitis pigmentosa associated with bull's-eye maculopathy" Genomics. (印刷中). (1994)

    • Related Report
      1993 Annual Research Report
  • [Publications] Nakazawa,M,Kikawa,E.et al: "Ocular findings associated with Asn244Lys mutotion in the peripherin/RDS gene in patiento with autosomal dominant retinitis pigmentosa" Archives of Ophthalmology. (印刷中). (1994)

    • Related Report
      1993 Annual Research Report
  • [Publications] Nakazawa,M,Kikawa,E.et al: "Genotype-phenotype correlation in autosomal dominant retinitis pigmentosa with different amino acid changes of the peripherin/RDS" Investigative Ophthalmology & Visual Science. (印刷中). (1994)

    • Related Report
      1993 Annual Research Report
  • [Publications] Kikawa,E,Nakazawa,M et al: "Novel mutations in the peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa found in Japanese patients" Investigative Ophthalmology & Visual Science. (印刷中). (1994)

    • Related Report
      1993 Annual Research Report
  • [Publications] Nakazawa,M et al(分担): "Retinal Degeneration:Clinical and Laboratory Applications" Plenum Publishing Corp., 8 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] 中沢満(分担): "眼科学大系(網膜色素変性)" 中山書店(印刷中), (1994)

    • Related Report
      1993 Annual Research Report

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Published: 1993-04-01   Modified: 2016-04-21  

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