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

[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.

[学科分类] 兽医学

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