AI Article Synopsis
- A group of miniature dachshunds showed symptoms of muscle weakness and exercise intolerance, prompting a detailed study.
- Researchers used muscle biopsies, immunofluorescence, and genetic sequencing to investigate the underlying condition, identifying signs of a specific muscular dystrophy known as sarcoglycanopathy.
- A new genetic mutation associated with this condition was found in the sarcoglycan A subunit gene, providing insights into canine muscular dystrophies and their relevance to human health.
Article Abstract
Background: A cohort of related miniature dachshund dogs with exercise intolerance, stiff gait, dysphagia, myoglobinuria, and markedly elevated serum creatine kinase activities were identified.
Methods: Muscle biopsy histopathology, immunofluorescence microscopy, and western blotting were combined to identify the specific pathologic phenotype of the myopathy, and whole genome SNP array genotype data and whole genome sequencing were combined to determine its genetic basis.
Results: Muscle biopsies were dystrophic. Sarcoglycanopathy, a form of limb-girdle muscular dystrophy, was suspected based on immunostaining and western blotting, where α, β, and γ-sarcoglycan were all absent or reduced. Genetic mapping and whole genome sequencing identified a premature stop codon mutation in the sarcoglycan A subunit gene (SGCA). Affected dachshunds were confirmed on several continents.
Conclusions: This first SGCA mutation found in dogs adds to the literature of genetic bases of canine muscular dystrophies and their usefulness as comparative models of human disease.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7789357 | PMC |
| http://dx.doi.org/10.1186/s13395-020-00257-y | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!