Basic studies for the genetic diagnoses of hereditary neurological diseases in companion animals

伴侣动物遗传性神经系统疾病基因诊断的基础研究

• 批准号: 22380171
• 负责人: UCHIDA Kazuyuki
• 金额: $ 12.31万
• 依托单位: The University of Tokyo
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (B)
• 财政年份: 2010
• 资助国家: 日本
• 起止时间: 2010-04-01 至 2014-03-31
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-22380171/
• 关键词: 神経疾患; 伴侶動物; 遺伝性疾患; 神経軸索ジストロフィー; 変性性脊髄症; 壊死性髄膜脳炎; イヌ; ネコ; PLA2G6遺伝子変異; イヌ変性性脊髄症; SOD1遺伝子変異; グロボイド細胞型白質ジストロフィー; 組織球性肉腫; 遺伝子疾患; イヌ壊死性脳炎; イヌ肉芽腫性脳炎; ウェルシュ・コーギー; 肉芽腫性脳炎; 遺伝子診断; 神経病理

The research works focused on neuronal diseases in animals that possibly have hereditary etiology to know the pathogenesis and genetic factors. The investigations successfully revealed the causative gene mutation of canine neuroaxonal dystrophy. The studies also revealed the detailed pathogenesis of canine degenerative myelopathy. The mutation of SOD1 gene had a limited role and some additional factors would be necessary for the pathogenesis of the ALS-like-diseases. Throughout the research works, some neurodegenerative disorders such as Alexander-like disease and Globoid cell leukodystrophy have been newly found, and causative genes of the diseases were elucidated. The achievements of the series of research will directory provide useful information to prevent the hereditary neuronal diseases and to product animal models for similar human diseases.

该研究工作主要针对可能具有遗传病因的动物神经元疾病，以了解其发病机制和遗传因素。研究成功揭示了犬神经轴突营养不良的致病基因突变。 研究还揭示了犬退行性脊髓病的详细发病机制。 SOD1基因突变的作用有限，ALS类疾病的发病还需要一些额外的因素。在整个研究工作中，新发现了一些神经退行性疾病，如亚历山大样病和球状细胞脑白质营养不良，并阐明了这些疾病的致病基因。该系列研究成果将为预防遗传性神经元疾病和制备类似人类疾病的动物模型提供有用的信息。

项目成果

Pathological and immunohistochemical features of subdural histiocytic sarcomas in 15 dogs

• DOI: 10.1177/104063871102300123
• 发表时间: 2011-01-01
• 期刊: JOURNAL OF VETERINARY DIAGNOSTIC INVESTIGATION
• 影响因子: 1.5
• 作者: Ide, Tetsuya;Uchida, Kazuyuki;Nakayama, Hiroyuki
• 通讯作者: Nakayama, Hiroyuki

Comparative Study of Cerebellar Degeneration in Canine Neuroaxonal Dystrophy, Cerebellar Cortical Abiotrophy, and Neuronal Ceroid-Lipofuscinosis

犬神经轴突营养不良、小脑皮质营养不良和神经元蜡质脂褐质沉积症中小脑变性的比较研究

• DOI: 10.1292/jvms.10-0072
• 发表时间: 2010
• 期刊: Journal of Veterinary Medical Science
• 影响因子: 1.2
• 作者: Nibe K;Nakayama H;Uchida K.
• 通讯作者: Uchida K.

Periventricular leukomalacia (PVL)-like lesions in two neonatal cynomolgus monkeys (macaca fascicularis)

两只新生食蟹猴（食蟹猴）脑室周围白质软化（PVL）样病变

• DOI: 10.1016/j.jcpa.2010.06.006
• 发表时间: 2011
• 期刊: J Comp Pathol
• 影响因子: 0.8
• 作者: Okabayashi S;Uchida K;Nakayama H;Ohno C;Hanari K;Goto I;Yasutomi Y
• 通讯作者: Yasutomi Y

Clinical and pathologic features of neuronal ceroid-lipofuscinosis in a ferret (Mustela putorius furo)

雪貂神经元蜡质脂褐质沉着症的临床和病理特征（Mustela putorius Furo）

• DOI: 10.1177/0300985811400441
• 发表时间: 2011
• 期刊: Vet Pathol
• 影响因子: 2.4
• 作者: Nibe;K.;Miwa;Y.;Matsunaga;S.;Uetsuka;K.;Nakayama;H.;Uchida;K
• 通讯作者: K

Comprehensive Immunohistochemical Studies on Canine Necrotizing Meningoencephalitis (NME), Necrotizing Leukoencephalitis (NLE), and Granulomatous Meningoencephalomyelitis (GME)

• DOI: 10.1177/0300985811429311
• 发表时间: 2012-07-01
• 期刊: VETERINARY PATHOLOGY
• 影响因子: 2.4
• 作者: Park, E. S.;Uchida, K.;Nakayama, H.
• 通讯作者: Nakayama, H.