Canine degenerative myelopathy (DM) is a naturally occurring neurodegenerative disease with similarities to some forms of human amyotrophic lateral sclerosis (ALS). Most dogs that develop DM are homozygous for a common superoxide dismutase 1 (SOD1) gene mutation, and more than 20 years ago, a mutation in the same gene was the first genetic risk factor to be identified in humans. In 2016, our group and collaborators identified a modifier gene, SP110 nuclear body protein (SP110), which strongly affects overall disease risk and age of onset in Pembroke Welsh Corgis at risk for degenerative myelopathy. Given the high number of dogs with the SOD1 mutation but lack of disease, we hope to find more risk factors contributing to the disease.
Ivansson, E.L., Megquier, K., Kozyrev, S.V., Murén, E., Körberg, I.B., Swofford, R., Koltookian, M., Tonomura, N., Zeng, R., Kolicheski, A.L., Hansen, L., Katz, M.L., Johnson, G.C., Johnson, G.S., Coates, J.R., Lindblad-Toh, K., 2016. Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy. Proc Natl Acad Sci U S A 113, E3091–100. doi:10.1073/pnas.1600084113
Zeng, R., Coates, J.R., Johnson, G.C., Hansen, L., Awano, T., Kolicheski, A., Ivansson, E., Perloski, M., Lindblad-Toh, K., O’Brien, D.P., Guo, J., Katz, M.L., Johnson, G.S., 2014. Breed distribution of SOD1 alleles previously associated with canine degenerative myelopathy. J Vet Intern Med 28, 515–521. doi:10.1111/jvim.12317
Awano, T., Johnson, G.S., Wade, C.M., Katz, M.L., Johnson, G.C., Taylor, J.F., Perloski, M., Biagi, T., Baranowska, I., Long, S., March, P.A., Olby, N.J., Shelton, G.D., Khan, S., O’Brien, D.P., Lindblad-Toh, K., Coates, J.R., 2009. Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A 106, 2794–2799. doi:10.1073/pnas.0812297106