Degenerative myelopathy in the Collie breed: a retrospective immunohistochemical analysis of superoxide dismutase 1 in an affected Rough Collie, and a molecular epidemiological survey of the SOD1: c.118G>A mutation in Japan.
Degenerative myelopathy in the Collie breed: a retrospective immunohistochemical analysis of superoxide dismutase 1 in an affected Rough Collie, and a molecular epidemiological survey of the SOD1: c.118G>A mutation in Japan.
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DOI：
10.1292/jvms.16-0391
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发表时间：
2017-02-28
期刊：
影响因子：
--
通讯作者：
Yamato O
中科院分区：
文献类型：
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作者：
Kohyama M;Kitagawa M;Kamishina H;Kobatake Y;Yabuki A;Sawa M;Kakita S;Yamato O
犬退行性脊髓病（DM）是一种成年发病的进行性神经退行性疾病，发生在多种犬种中。犬超氧化物歧化酶1（SOD 1）基因的一个DM相关突变（命名为c.118G>A（p.E40K））已被认为是许多品种中DM的致病决定因素之一，但c.118G>A突变是否与柯利犬DM的发生或进展有关仍有待确定。以前，在日本，一只粗糙的牧羊犬犬在临床和组织病理学上被诊断为患有DM，这表明牧羊犬犬种可能由于在日本c.118 G>A的高频率而易患DM。在这项研究中，积累和聚集体形成的SOD 1蛋白的DM影响狗的脊髓中的免疫组化分析进行了回顾性证明。此外，一项分子流行病学调查显示，在日本的柯利犬人群中，c.118 G>A的携带率（27.6%）和突变等位基因频率（0.138）较高，这表明牧羊犬品种可能易患与c.118 G>A相关的DM，日本柯利犬DM的预防应通过流行病学和基因检测策略来解决。
Canine degenerative myelopathy (DM) is an adult-onset, progressive neurodegenerative disease that occurs in multiple dog breeds. A DM-associated mutation of the canine superoxide dismutase 1 (SOD1) gene, designated as c.118G>A (p.E40K), has been implicated as one of pathogenetic determinants of the disease in many breeds, but it remains to be determined whether the c.118G>A mutation is responsible for development or progression of DM in Collies. Previously, a Rough Collie was diagnosed clinically and histopathologically as having DM in Japan, suggesting the possibility that the Collie breed may be predisposed to DM due to the high frequency of c.118G>A in Japan. In this study, accumulation and aggregate formation of SOD1 protein were retrospectively demonstrated in the spinal cord of the DM-affected dog by immunohistochemical analysis. Furthermore, a molecular epidemiological survey revealed a high carrier rate (27.6%) and mutant allele frequency (0.138) of c.118G>A in a population of Collies in Japan, suggesting that the Collie breed may be predisposed to DM associated with c.118G>A, and the prevention of DM in Collies in Japan should be addressed through epidemiological and genetic testing strategies.