- Last Updated: 12 April 2021
- Published: 11 April 2021
Carolyn Z. Gerganoff – Health and Genetics Chair – GSDCA
Canine degenerative myelopathy (DM) is a naturally occurring progressive adult-onset neurodegenerative disease that is fatal. Performing genome-wide association studies (GWAS) in Pembroke Welsh Corgis (PWC), we identified an association to a SOD1 variant, coding for the E40K amino acid substitution, that occurs in >180 dog breeds. The vast majority of breeds with DM have the same SOD1 mutation. Using PWC with the SOD1 disease allele, we compared early onset cases and elderly healthy dogs that also were homozygous for the DM risk allele. A mutation in SP110 was found to predispose to early onset DM. Given that the frequency of the SOD1 mutation and disease is variable within and across breeds we believe that multiple additional genes may affect at what age the disease starts. Overall, we have collected over 20,000 German shepherd dogs (GSD) dogs and genotyped them for the standard SOD1 mutation. The disease is frequent and the allele frequency in GSD is 35%. In this proposal we will perform health updates for already collected and novel GSDs and look at the age of first appearance distribution. We will then select up to 250 old healthy dogs to compare them to the 250 dogs with the earliest appearance (both categories having two copies of the SOD1 mutation). This should identify novel modifier genes determining if SOD1+ dogs get the disease early or late (or not at all). Finally, we will perform whole-genome sequencing of three GSDs with the disease, but lacking the known SOD1 mutation, to identify additional risk factors.
The DM research sample form is for dogs participating for our now approved DM Research study.
The study is looking for samples for any dog with DM and those that are 7 years and older who are healthy. To submit for the Research, use the “2021 DM Research” form. For a regular submission of a younger unaffected dog, use the plain DM sample form.