02943-MOU: Identification of Genetic Risk Factors in Degenerative Myelopathy in German Shepherd Dogs

Grant Status: Open

Grant Amount: $90,000
Kerstin Lindblad-Toh, PhD; Broad Institute
July 1, 2021 - June 30, 2022

Sponsor(s): German Shepherd Dog Club of America

Breed(s): German Shepherd Dog
Research Program Area: Neurology
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Abstract

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), investigators 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, comparisons were made between 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 investigators believe that multiple additional genes may affect at what age the disease starts. Overall, the research team has collected DNA from 20,000 German Shepherd Dogs (GSD) and genotyped them for the standard SOD1 mutation to demonstrate the disease is frequent and the allele frequency is 35% for this breed. This study will perform health updates for already collected and novel GSDs and look at the age of onset distribution for DM. As with the PWC studies, comparisons will be made between old healthy GSDs and GSDs with the earliest onset of DM (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, whole-genome sequencing of three GSDs with the disease, but lacking the known SOD1 mutation, will help identify additional risk factors. Together, these aims may develop more accurate genetic tests for DM in GSDs and other breeds.

Funding for the research is provided through the collaborative efforts and generosity of the German Shepherd Dog Club of America. The AKC Canine Health Foundation supports the funding of this effort and will oversee grant administration and scientific progress.


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