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Establishment of animal models of lysosomal storage diseases and prevention of those diseases outside the laboratory

Research Project

Project/Area Number 16380210
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Clinical veterinary science
Research InstitutionKagoshima University (2006-2007)
Hokkaido University (2004-2005)

Principal Investigator

YANIATO Osamu  Kagoshima University, Faculty of Agriculture, Professor (80261337)

Co-Investigator(Kenkyū-buntansha) OCHIAI Kenji  Hokkaido University, Graduate School of Veterinary Medicine, Associate Professor (80214162)
ENDO Daiji  Rakuno Gakuen University, Faculty of Veterinary Medicine, Professor (40168828)
MATSUKI Naoaki  University of Tokyo, Graduate School of Agriculture and Life Sciences, Associate Professor (40251417)
YAMASAKI Masahiro  Hokkaido University, Graduate School of Veterinary Medicine, Associate Professor (40322846)
前出 吉光  鹿児島大学, 大学院獣医学研究科, 教授 (40002084)
Project Period (FY) 2004 – 2007
Project Status Completed (Fiscal Year 2007)
Budget Amount *help
¥13,530,000 (Direct Cost: ¥12,900,000、Indirect Cost: ¥630,000)
Fiscal Year 2007: ¥2,730,000 (Direct Cost: ¥2,100,000、Indirect Cost: ¥630,000)
Fiscal Year 2006: ¥2,000,000 (Direct Cost: ¥2,000,000)
Fiscal Year 2005: ¥5,300,000 (Direct Cost: ¥5,300,000)
Fiscal Year 2004: ¥3,500,000 (Direct Cost: ¥3,500,000)
Keywordslysosomal storage disease / animal modes / gangliosidosis / ceroid-lipofuscinosis / inherited disease / screening
Research Abstract

1.GMI gangliosidosis in shiba dogs
The diagnostic method was developed to be more rapid and easier one. Using the method, a molecular survey was performed to start preventive measure in Japan and overseas. The characteristics in MRI imaging in this disease were determined. In addition, the biomarkers in cerebrospinal fluid to show the degree of neurodeneration were determined. Using these biomarkers, it was demonstrated that a glucocorticoid therapy is not efficient for GM1 gangliosidosis.
2. Sandhoff disease in a gorden retriever
The characteristics in MRI imaging in canine Sandhoff disease were determined. However, no mutations were detected in the sequence of exons of canine HEXB gene.
3. Sandhoff disease in Japanese domestic cats
The characteristics in MR1 imaging in feline Sandhoff disease were determined. The causative mutation could be identified in the feline HEXB gene, and the molecular test was developed. The molecular survey suggested that this mutation is widely spread in the Japanese domestic cat population.
4. Ceroid-lipofuscinosis in border collies
The DNA assay was developed and a molecular survey was performed all over Japan in partnership with a civilian organization, Japan Border Collie Health Network. This activity demonstrated that a carrier frequency of this disease is 4 to 5% and the activity can be effective for prevention of this disease.
5.Lysosomal disease in a Japanese black calf
The analysis of storage materials in organs of the calf showed that the Materials might be sialic acids-bound oligosaccharides and GM3 ganglioside. This result suggested that the disease might be galactosialidosis or sialidosis. However, no mutations were found on two genes related to these candidate diseases.

Report

(5 results)
  • 2007 Annual Research Report   Final Research Report Summary
  • 2006 Annual Research Report
  • 2005 Annual Research Report
  • 2004 Annual Research Report

Research Products

(49 results)

All 2008 2007 2006 2005 2004 Other

All Journal Article (41 results) (of which Peer Reviewed: 16 results) Presentation (7 results) Book (1 results)

  • [Journal Article] Molecular screening of canine GMl gangliosidosis using blood smear specimens after prolonged storage:Detection of carriers among Shiba dogs in northern Japa2008

    • Author(s)
      Osamu Yamato
    • Journal Title

      J.Vet.Diagn.Invest. 20

      Pages: 68-71

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] Retrospective diagnosis of feline Gm2 gangliosisdosis variant 0 (Sandhoff-like disease) in Japan: possible spread of the mustant allele in the Japanese domestic cat population2008

    • Author(s)
      Osamu Yamato
    • Journal Title

      J.Vet.Med.Sci. (in press)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] Morphological analysis of corneal opacity in Shiba dog in GM1 gangliosidosis2008

    • Author(s)
      Aya Nagayasu
    • Journal Title

      J.Vet.Med.Sci. (in press)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] Molecular screening of canine GM1 gangliosidosis using blood smear specimens after prolonged storage : Detection of carriers among Shiba dogs in northern Japan2008

    • Author(s)
      Osamu, Yamato
    • Journal Title

      J. Vet. Diagn. Invest 20

      Pages: 68-71

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Molecular screening of canine GM1 gangliosidosis using blood smear specimens after prolonged storage: Detection of carriers among Shiba dogs in northern Japan.2008

    • Author(s)
      Osamu Yamato
    • Journal Title

      J. Vet. Diagn. Invest. 20

      Pages: 68-71

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Retrospective diagnosis of feline GM2 gangliosidosis variant 0 (Sandhoff-like disease) in Japan: possible spread of the mutant allele in the Japanese domestic cat population.2008

    • Author(s)
      Osamu Yamato
    • Journal Title

      J. Vet. Med. Sci. (in press)

    • NAID

      130000446910

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Nonsense mutation of feline b-hexosaminidase b-subunit (HERB)gene causing Sandhoff disease in a family of Japanese domesti ccats2007

    • Author(s)
      Yutaka Kanae
    • Journal Title

      Res.Vet.Sci. 82

      Pages: 54-60

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] Cerebrospinal fluid biomarkers showing neurodegeneration in dogs with GMl gan gliosidosis:Possible use for assessment of a therapeutic regimen2007

    • Author(s)
      Hiroyuki Satoh
    • Journal Title

      Brain Res. 1133

      Pages: 200-208

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] Clinical and molecular analysis of GM2 gangliosidosis in two apparent littermate kittens of the Japanese domestic cat2007

    • Author(s)
      Daisuke Hasegawa
    • Journal Title

      J.Feline Med.Surg. 9

      Pages: 232-237

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] Nonsense mutation of feline b-hexosaminidase b-subunit (HEXB) gene causing Sandhoff disease in a family of Japanese domestic cats2007

    • Author(s)
      Yutaka, Kanae
    • Journal Title

      Res. Vet. Sai 82

      Pages: 54-60

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Cerebrospinal fluid biomarkers showing neurodegeneration in dogs with GM1 gangliosidosis : Possible use for assessment of a therapeutic regimen2007

    • Author(s)
      Hiroyuki, Satoh
    • Journal Title

      Brain Res 1133

      Pages: 200-208

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Clinical and molecular analysis of GM2 gangliosidosis in two apparent littermate kittens of the Japanese domestic cat2007

    • Author(s)
      Daisuke, Hasegawa
    • Journal Title

      J. Feline Med. Surg 9

      Pages: 232-237

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Clinical and molecular analysis of GM2 gangliosidosis in two ap parent littermate kittens of the Japanese domestic cat.2007

    • Author(s)
      Daisuke Hasegawa
    • Journal Title

      J. Feline Med. Surg. 9

      Pages: 232-237

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Nonsense mutation of feline β-hexosaminidase β-subunit (HEXB) gene causing Sandhoff disease in a family of Japanese domestic cats.2007

    • Author(s)
      Yutaka Kanae
    • Journal Title

      Res.Vet.Sci. 82

      Pages: 54-60

    • Related Report
      2006 Annual Research Report
  • [Journal Article] Cerebrospinal fluid biomarkers showing neurodegeneration in dogs with GM1 gangliosidosis : Possible use for assessment of a therapeutic regimen.2007

    • Author(s)
      Horoyuki Satoh
    • Journal Title

      Brain Res. 1133

      Pages: 200-208

    • Related Report
      2006 Annual Research Report
  • [Journal Article] Clinical and molecular analysis of GMII ganglisidosis in two apparent littermate kittens of the Japanese domestic cat.2007

    • Author(s)
      Daisuke Hasegawa
    • Journal Title

      J.Feline Med.Surg. (in press)

    • Related Report
      2006 Annual Research Report
  • [Journal Article] A case of suspected lysosomal storage disease in a neonatal Japanese black calf2006

    • Author(s)
      Osamu Mikami
    • Journal Title

      J.Vet.Med.A 53

      Pages: 77-80

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] Use of amnion and placeta in neonatal screening for canine GM1-gangliosidosis and the risk of diagnostic misclassifications2006

    • Author(s)
      Osamu Yamato
    • Journal Title

      Vet.Clin.Pathol. 35

      Pages: 91-94

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] A case of suspected lysosomal storage disease in a neonatal Japanese black calf2006

    • Author(s)
      Osamu, Mikami
    • Journal Title

      J. Vet. Med. A 53

      Pages: 77-80

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Use of amnion and placenta in neonatal screening for canine GM1-gangliosidosis and the risk of diagnostic misclassifieations2006

    • Author(s)
      Osamu, Yamato
    • Journal Title

      Vet Clin. Pathol 35

      Pages: 91-94

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Use of amnion and placenta in neonatal screening for canine GM1-gangliosidosis and the risk of diagnostic misclassifications.2006

    • Author(s)
      Osamu Yamato
    • Journal Title

      Vet.Clin.Pathol. 35

      Pages: 91-94

    • Related Report
      2006 Annual Research Report
  • [Journal Article] A case of suspected lysosomal disease in a neonatal Japanese black calf.2006

    • Author(s)
      Osamu Mikami
    • Journal Title

      J.Vet.Med.A 53

      Pages: 77-80

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Use of amnion and placenta in neonatal screening for canine GM1-gangliosidosis and the risk of diagnostic misclassifications.2006

    • Author(s)
      Osamu Yamato
    • Journal Title

      Vet.Clin.Pathol. 35(in press)

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Magnetic resonance imaging of G_<M2>-gangliosidosis in a golden retriever2005

    • Author(s)
      Naoaki Matsuki
    • Journal Title

      Can.Vet.J. 46

      Pages: 275-278

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] Magnetic resonance imaging of GM2-gangliosidosis in a golden retriever2005

    • Author(s)
      Naoaki, Matsuki
    • Journal Title

      Can. Vet. J 46

      Pages: 275-278

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Magnetic resonance imaging of GM2-gangliosidosis in a golden retriever.2005

    • Author(s)
      Naoaki Matsuki
    • Journal Title

      Can.Vet.J. 46

      Pages: 275-278

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Magnetic resonance imaging of GM2-gangliosidosis in a golden retriever.2005

    • Author(s)
      Naoaki Matsuki
    • Journal Title

      Can.Vet.J. 46(In press)

    • Related Report
      2004 Annual Research Report
  • [Journal Article] Comparison of polymerase chain reaction-restriction fragment length polymorphism assay and enzyme assay for diagnosis of G_<MI>-gangliosidosis in Sbiba dogs2004

    • Author(s)
      Osamu Yamato
    • Journal Title

      J.Vet.Diagn.Invest. 16

      Pages: 299-304

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] Rapid and simple mutation screening of G_<MI> gangliosidosis in Shiba dogs by duect amplification of deoxyribonucleic acid from various forms of canine whole-blood specimens2004

    • Author(s)
      Osamu Yamato
    • Journal Title

      J.Vet.Diagn.Invest. 16

      Pages: 469-472

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] Magnetic resonance imaging of neuronal ceroid lipdfuscinosis in a border collie2004

    • Author(s)
      Hiroshi Koie
    • Journal Title

      J.Vet.Med.Sci. 66

      Pages: 1453-1456

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] G_<M2>-gangliosidosis variant O(Sandhoff-like disease)in a family of Japanese dome stic cats2004

    • Author(s)
      Osamu Yamato
    • Journal Title

      Vet.Rec. 155

      Pages: 739-744

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] Comparison of polymerase chain reaction-restriction fragment length polymorphism assay and enzyme assay for diagnosis of GM,-gangliosidosis in Shiba dogs2004

    • Author(s)
      Osamu, Yamato
    • Journal Title

      J. Vet. Diagn. Invest 16

      Pages: 299-304

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Rapid and simple mutation screening of Gm, gangliosidosis in Shiba dogs by direct amplification of deoxyribonucleic acid from various forms of canine whole-blood specimens2004

    • Author(s)
      Osamu, Yamato
    • Journal Title

      J. Vet. Diagn. Invest 16

      Pages: 469-472

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Magnetic resonance imaging of neuronal ceroid lipofuscinosis in a border collie2004

    • Author(s)
      Hiroshi, Koie
    • Journal Title

      J. Vet. Med. Sci 66

      Pages: 1453-1456

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] G_M_2-gangliosidosis variant 0 (Sandhoff-like disease) in a family of Japanese domestic cats2004

    • Author(s)
      Osamu, Yamato
    • Journal Title

      Vet. Rec 155

      Pages: 739-744

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Comparison of polymerase chain reaction-restriction fragment length polymorphism assay and enzyme assay for diagnosis of GM1-gangliosidosis in Shiba dogs.2004

    • Author(s)
      Osamu Yamato
    • Journal Title

      J.Vet.Diagn.Invest. 16(4)

      Pages: 299-304

    • Related Report
      2004 Annual Research Report
  • [Journal Article] Rapid and simple mutation screening of GM1 gangliosidosis in Shiba dogs by direct amplification of deoxyribonucleic acid from various forms of canine whole-blood specimens.2004

    • Author(s)
      Osamu Yamato
    • Journal Title

      J.Vet.Diagn.Invest. 16(5)

      Pages: 469-472

    • Related Report
      2004 Annual Research Report
  • [Journal Article] Magnetic resonance imaging of neuronal ceroid lipofuscinosis in a border collie.2004

    • Author(s)
      Hiroshi Koie
    • Journal Title

      J.Vet.Med.Sci. 66(11)

      Pages: 1453-1456

    • Related Report
      2004 Annual Research Report
  • [Journal Article] GM2-gangliosidosis variant 0 (Sandhoff-like disease) in a family of Japanese domestic cats.2004

    • Author(s)
      Osamu Yamato
    • Journal Title

      Vet.Rec. 155(23)

      Pages: 739-744

    • Related Report
      2004 Annual Research Report
  • [Journal Article] Retrospective diagnosis of feline GM2 gangliosidosis variant 0 (Sandhoff-like disease) in Japan : possible spread of the mutant allele in the Japanese domestic cat population

    • Author(s)
      Osamu, Yamato
    • Journal Title

      J. Vet Med. Sci (in press)

    • NAID

      130000446910

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Morphological analysis of corneal opacity in Shiba dog in GM1 gangliosidosis

    • Author(s)
      Aya, Nagayasu
    • Journal Title

      J. Vet. Med. Sci (in press)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] 犬猫のライソゾーム蓄積病モデル:その応用と問題点2007

    • Author(s)
      大和 修
    • Organizer
      第143回日本獣医学会
    • Place of Presentation
      つくば市
    • Year and Date
      2007-04-04
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Canine and feline models for lysosomal storage diseases : its application and problems2007

    • Author(s)
      Osamu, Yamato
    • Organizer
      The 143th Meeting of The Japanese Society of Veterinary Science
    • Place of Presentation
      Tsukuba, Japan
    • Year and Date
      2007-04-04
    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] 犬猫のライソゾーム蓄積病モデル:その応用と問題点.2007

    • Author(s)
      大和 修
    • Organizer
      第143回日本獣医学会
    • Place of Presentation
      つくば市(国際会議場)
    • Year and Date
      2007-04-04
    • Related Report
      2007 Annual Research Report
  • [Presentation] A novel mutation of feline HEXB gene causing Sandhoff disease(GM2 gangliosi dosis variant 0)in Japanese domestic cats2006

    • Author(s)
      Osamu Yamato
    • Organizer
      XII Congress of the International Society for Animal Clinical Biochemishy
    • Place of Presentation
      Istanbul,Turkey
    • Year and Date
      2006-05-24
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] A novel mutation of feline HEXB gene causing Sandhoff disease(GM2 gangliosidosis variant 0) in Japanese domestic cats2006

    • Author(s)
      Osamu, Yamato
    • Organizer
      XII Congress of the International Society for Animal Clinical Biochemistry
    • Place of Presentation
      Istanbul, Turkey
    • Year and Date
      2006-05-24
    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Lysosomal diseases in dogs and cats : identification and models2005

    • Author(s)
      Osamu, Yamato
    • Organizer
      The 22rd Annual Meeting of The Japanese Society of Animal Models for Human Diseases
    • Place of Presentation
      Ikaho-cho, Gunma, Japan
    • Year and Date
      2005-12-25
    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] 犬猫のライソゾーム病:その発掘とモデル化2005

    • Author(s)
      大和 修
    • Organizer
      第22回疾患モデル学会
    • Place of Presentation
      群馬県伊香保町
    • Year and Date
      2005-11-25
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Book] 新版主要症状を基礎にした猫の臨床2004

    • Author(s)
      大和 修(共著)
    • Publisher
      デーリイマン社
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary

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Published: 2004-03-31   Modified: 2016-04-21  

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