Peer-reviewed veterinary case report
SOD1 gene mutation linked to degenerative myelopathy in Pembroke
By Awano, Tomoyuki et al.·Published in Proceedings of the National Academy of Sciences of the United States of America·2009·Department of Veterinary Pathobiology, United States·View original on PubMed →
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Original publication title: Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis.
- Species:
- dog
Plain-English summary
A group of older Pembroke Welsh Corgis was found to have a genetic mutation linked to canine degenerative myelopathy (DM), a serious disease that affects their ability to move. Symptoms usually start around 8 years of age, with signs like weakness and coordination problems in the back legs, which can worsen over time. Researchers discovered a specific mutation in the SOD1 gene that is similar to one found in humans with amyotrophic lateral sclerosis (ALS). This mutation was present in several breeds, including Boxers and German Shepherds. Unfortunately, DM is a progressive condition, and affected dogs may eventually need to be euthanized if their quality of life declines.
People also search for: dog degenerative myelopathy symptoms · Pembroke Welsh Corgi genetic testing · canine SOD1 mutation treatment
Abstract
Canine degenerative myelopathy (DM) is a fatal neurodegenerative disease prevalent in several dog breeds. Typically, the initial progressive upper motor neuron spastic and general proprioceptive ataxia in the pelvic limbs occurs at 8 years of age or older. If euthanasia is delayed, the clinical signs will ascend, causing flaccid tetraparesis and other lower motor neuron signs. DNA samples from 38 DM-affected Pembroke Welsh corgi cases and 17 related clinically normal controls were used for genome-wide association mapping, which produced the strongest associations with markers on CFA31 in a region containing the canine SOD1 gene. SOD1 was considered a regional candidate gene because mutations in human SOD1 can cause amyotrophic lateral sclerosis (ALS), an adult-onset fatal paralytic neurodegenerative disease with both upper and lower motor neuron involvement. The resequencing of SOD1 in normal and affected dogs revealed a G to A transition, resulting in an E40K missense mutation. Homozygosity for the A allele was associated with DM in 5 dog breeds: Pembroke Welsh corgi, Boxer, Rhodesian ridgeback, German Shepherd dog, and Chesapeake Bay retriever. Microscopic examination of spinal cords from affected dogs revealed myelin and axon loss affecting the lateral white matter and neuronal cytoplasmic inclusions that bind anti-superoxide dismutase 1 antibodies. These inclusions are similar to those seen in spinal cord sections from ALS patients with SOD1 mutations. Our findings identify canine DM to be the first recognized spontaneously occurring animal model for ALS.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/19188595/