Scientists identify genetic roots of debilitating pug spine disease
Researchers have pinpointed 19 genetic locations linked to a progressive spinal disorder that leaves pugs paralyzed and incontinent. The discovery opens pathways for breed-specific disease screening and potential therapies—and demonstrates how precision genetics can tackle inherited conditions in animals, with implications for human neurodegenerative disease research.
Originaltitel: Multiple Genetic Loci Associated with Pug Dog Thoracolumbar Myelopathy
<p>Pug dogs with thoracolumbar myelopathy (PDM) present with a specific clinical phenotype that includes progressive pelvic limb ataxia and paresis, commonly accompanied by incontinence. Vertebral column malformations and lesions, excessive scar tissue of the meninges, and central nervous system inflammation have been described. PDM has a late onset and affects more male than female dogs. The breed-specific presentation of the disorder suggests that genetic risk factors are involved in the disease development. To perform a genome-wide search for PDM-associated loci, we applied a Bayesian model adapted for mapping complex traits (BayesR) and a cross-population extended haplotype homozygosity test (XP-EHH) in 51 affected and 38 control pugs. Nineteen associated loci (harboring 67 genes in total, including 34 potential candidate genes) and three candidate regions under selection (with four genes within or next to the signal) were identified. The multiple candidate genes identified have implicated functions in bone homeostasis, fibrotic scar tissue, inflammatory responses, or the formation, regulation, and differentiation of cartilage, suggesting the potential relevance of these processes to the pathogenesis of PDM.</p>