2011 Fiscal Year Final Research Report
Development of novel methods for diagnosis, prevention and treatment in inherited diseases(lysosomal storage diseases) in animals
| Project/Area Number |
20380173
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Clinical veterinary science
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| Research Institution | Kagoshima University |
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Principal Investigator |
YAMATO Osamu 鹿児島大学, 農学部, 教授 (80261337)
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| Co-Investigator(Renkei-kenkyūsha) |
ENDOH Daiji 酪農学園大学, 獣医学部, 教授 (40168828)
KUNIEDA Tetsuo 岡山大学, 自然科学研究科, 教授 (80178011)
TAKEHANA Kazushige 酪農学園大学, 獣医学部, 教授 (80137413)
YAMANAKA Shoji 横浜市立大学, 大学病院, 准教授 (80264604)
OCHIAI Kenji 北海道大学, 獣医学研究科, 教授 (80214162)
UCHIDA Kazuyuki 東京大学, 農学生命科学研究科, 准教授 (10223554)
HASEGAWA Daisuke 日本獣医生命科学大学, 獣医学部, 講師 (20366793)
MATSUKI Naoaki 東京大学, 農学生命科学研究科, 教授 (40251417)
NAKAICHI Munekazu 山口大学, 農学部, 教授 (60243630)
ITAMOTO Kazuhiro 山口大学, 農学部, 准教授 (50379921)
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| Project Period (FY) |
2008 – 2011
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| Keywords | ライソゾーム蓄積病 / 動物モデル / ガングリオシドーシス / サンドホフ病 / セロイドリポフスチン症 / 遺伝病 / スクリーニング |
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| Research Abstract |
Diagnostic and screening methods for a number of novel and known animal inherited diseases especially lysosomal storage disorders were developed in this study. For canine diseases such as GM1 gangliosidosis and neuronal ceroid lipofuscinosis, preventive strategies were planed and carried out. The preventive measures resulted in a decrease of carrier frequency without the occurrence of affected animals in Japan at the end of study period. Furthermore, anti-inflammatory therapy was carried out in a cat affected with GM2 gangliosidosis suggesting that this treatment might have a survival advantage. In addition, some novel inherited diseases were indentified in dogs and cats, which will be investigated in the next study.
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[Journal Article] A frameshift mutation in the canine HEXB gene in toy poodles with GM2 gangliosidosis variant 0(Sandhoff disease)2012
Author(s)
Rahman MM, Chang HS, Mizukami K, Hossain MA, Yabuki A, Tamura S, Kitagawa M, Mitania S, Higo T, Uddin MM, Uchida K, Yamato O.
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Journal Title
Peer Reviewed
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[Journal Article] Neuronal ceroid lipofuscinosis in Border Collie dogs in Japan : clinical and molecular epidemiological study(2000. 2011)2012
Author(s)
Mizukami K, Kawamichi T, Koie H, Tamura S, Matsunaga S, Imamoto S, Saito M, Hasegawa D, Matsuki N, Tamahara S, Sato S, Yabuki A, Chang HS, Yamato O.
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Journal Title
Sci World J
Volume: (in press)
Pages: 383174
Peer Reviewed
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[Journal Article] Serial MRI features of canine GM1 gangliosidosis : a possible imaging biomarker for diagnosis and progression of the disease2012
Author(s)
Hasegawa D, Yamato O, Nakamoto Y, Ozawa T, Yabuki A, Itamoto K, Kuwabara T, Fujita M, Takahashi K, Mizoguchi S, Orima H.
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Journal Title
Sci World J
Pages: 250197
Peer Reviewed
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[Journal Article] Neuronal ceroid-lipofuscinosis in longhaired Chihuahuas : clinical, pathological, and MRI findings2011
Author(s)
Nakamoto Y, Yamato O, Uchida K, Nibe K, Tamura S, Ozawa T, Ueoka N, Nukaya A, Yabuki A, Nakaichi M.
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Journal Title
J Am Anim Hosp Assoc
Volume: 47(4)
Pages: e64-e70
Peer Reviewed
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[Journal Article] Mutation screening of canine GM1 gangliosidosis for preventive measures : absence of the mutant allele in breeding shiba dogs in the Czech Republic2009
Author(s)
Yamato O, Funk H, Kawahara N, Funkova M, Entlerova Z, Petrusova H, Hayashi D, Satoh H, Yamasaki M, Maede Y, Yabuki A, Arai T.
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Journal Title
Jpn J Prophylactic Vet Med
Volume: 1(2)
Pages: 63-68
Peer Reviewed
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[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 population2008
Author(s)
Yamato O, Hayashi D, Satoh H, Shoda T, Uchida K, Nakayama H, Sakai H, Masegi T, Murai A, Iida T, Hisada H, Hisada A, Yamasaki M, Maede Y, Arai T.
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Journal Title
J Vet Med Sci
Volume: 70(8)
Pages: 813-818
Peer Reviewed
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[Remarks] 田村慎司,大和修.犬の遺伝性神経変性性疾患における臨床獣医師の役割:ライソゾーム病症例の経験に基づいた考察.広島県獣医学雑誌26, 1-6, 2011 Aug.商業誌総説・解説
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[Remarks] 大和修.犬の先天代謝異常症.ライソゾーム病・スフィンゴリピドーシス., J-VET No.289, 59-70, 2011.商業誌総説・解説
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[Remarks] 大和修.治療シリーズ.私はこうしている.神経・筋肉・関節疾患ライソゾーム(蓄積)病. SA Medicine 12(6), 10-13, 2010.商業誌総説・解説
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[Remarks] 中本裕也,小澤剛,矢吹映,大和修.柴犬のGM1ガングリオシドーシス.早期診断を導くために必要な知識., Clinic Note No.58, 71-82, 2010.商業誌総説・解説
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[Remarks] 大和修.治療シリーズ.私はこうしている.血液疾患ホスホフルクトキナーゼ(PFK)欠損症. SA Medicine 12(1), 23-24, 2010.商業誌総説・解説
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[Remarks] 大和修.治療シリーズ.私はこうしている.血液疾患ピルビン酸キナーゼ(PK)欠損症. SA Medicine 12(1), 22-23, 2010.商業誌総説・解説
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[Remarks] 大和修.蓄積病の臨床・生化学.日本獣医病理学会および日本獣医病理専門家協会会報, 7月号, 6-10, 2008.商業誌総説・解説
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[Remarks] 大和修. DAMNIT-Vで学ぶ神経病学各論第4回「ライソゾーム病」. CAP(Companion Animal Practice) No.229, 51-62, 2008.商業誌総説・解説
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[Remarks] 大和修.動物の先天代謝異常症:ライソゾーム病および関連疾患について.鹿児島県獣医師会会報第41号, 20(1), 2-7, 2008.商業誌総説・解説
