SOD1B Degenerative Myelopathy (SOD1B)
Canine Degenerative Myelopathy, DM, SOD1B
Degenerative Myelopathy (DM) is a progressive disease of the spinal cord in older dogs. In many breeds, the disease is strongly correlated with a mutation in the superoxide dismutase 1 (SOD1) gene often referred to as the 118G>A mutation. A second mutation in the SOD1 gene has been detected in the Bernese Mountain Dog and is referred to as the SOD1B 52A>T mutation. The SOD1B mutation is detected much less frequently (3%) than the 118G>A mutation (38%) in Bernese Mountain Dogs but can lead to the same disease progression. It is important to note that a dog carrying one copy of the SOD1B 52A>T mutation and one copy of the DM 118G>A mutation is also at risk for disease progression.
Reading Your Results
These dogs have two copies of the normal gene and will neither develop Degenerative Myelopathy due to the SOD1B mutation nor pass this mutation to their offspring.
B. (CARRIER/NOT AFFECTED):
These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop Degenerative Myelopathy due to the SOD1B mutation but will, if bred, pass the mutation to 50% of its offspring, on average.
C. (AT RISK/AFFECTED):
These dogs have two copies of the SOD1B mutation and are at risk for developing Degenerative Myelopathy during their lifetime.
Pfahler S, Bachmann N, Fechler C, Lempp C, Baumgärtner W, Distl O. Degenerative myelopathy in a SOD1 compound heterozygous Bernese mountain dog. Anim Genet. 2014 Apr;45(2):309-10. [PubMed: 24450472]