Degenerative myelopathy in the Collie breed: a retrospectiveimmunohistochemical analysis of superoxide dismutase 1 in an affected Rough Collie, and amolecular epidemiological survey of the SOD1: c.118G>A mutation inJapan

The Journal of Veterinary Medical Science

Yui KOBATAKE¹  Mariko SAWA¹  Moeko KOHYAMA²  Osamu YAMATO²  Hiroaki KAMISHINA³  Masato KITAGAWA⁴  Shusaku KAKITA⁵  Akira YABUKI⁵ 

[1] Department of Veterinary Medicine, Faculty of AppliedBiological Sciences, Gifu University, 1-1 Yanagido, Gifu 501-1193,Japan;Laboratory of Clinical Pathology, Joint Faculty ofVeterinary Medicine, Kagoshima University, 1-21-24 Kohrimoto, Kagoshima 890-0065,Japan;Laboratory of Veterinary Neurology, College ofBioresource Sciences, Nihon University, 1866 Kameino, Fujisawa, Kanagawa 252-0880,Japan;The United Graduate School of Veterinary Science,Yamaguchi University, 1677-1 Yoshida, Yamaguchi 753-8511, Japan;The United Graduate School of Veterinary Sciences, GifuUniversity, 1-1 Yanagido, Gifu 501-1193, Japan

关键词: canine SOD1 gene;    Collie;    degenerative myelopathy;    immunohistochemistry;    mutant allele frequency;   

DOI  :  10.1292/jvms.16-0391

学科分类：兽医学

来源: Japanese Society of Veterinary Science

【 摘 要 】

Canine degenerative myelopathy (DM) is an adult-onset, progressive neurodegenerativedisease that occurs in multiple dog breeds. A DM-associated mutation of the caninesuperoxide 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, butit remains to be determined whether the c.118G>A mutation is responsible fordevelopment or progression of DM in Collies. Previously, a Rough Collie was diagnosedclinically and histopathologically as having DM in Japan, suggesting the possibility thatthe Collie breed may be predisposed to DM due to the high frequency of c.118G>A inJapan. In this study, accumulation and aggregate formation of SOD1 protein wereretrospectively demonstrated in the spinal cord of the DM-affected dog byimmunohistochemical analysis. Furthermore, a molecular epidemiological survey revealed ahigh carrier rate (27.6%) and mutant allele frequency (0.138) of c.118G>A in apopulation of Collies in Japan, suggesting that the Collie breed may be predisposed to DMassociated with c.118G>A, and the prevention of DM in Collies in Japan should beaddressed through epidemiological and genetic testing strategies.

【 授权许可】

Unknown