Canine Degenerative Myelopathy gene identified
Canine Degenerative Myelopathy (DM) is a neurodegenerative disease in dogs with similarities to ALS in humans. Previous research identified a gene mutation associated with the risk of developing the disease; however, not all dogs with the mutation became affected. A new study identifies why.
Researchers from Uppsala University, SciLifeLab, the Broad Institute of MIT and Harvard, and the University of Missouri, have discovered a modifier gene that affects the risk of developing DM in Pembroke Welsh Corgis (PWC).
The study was published in PNAS on April 15.
Genome-wide association analysis comparing affected and unaffected PWC with the SOD1 mutation identified a haplotype within the gene "SP110 nuclear body protein" that was associated with increased risk of developing DM and early age of onset.
The researchers discovered several variants in SP110 that were more common in the PWCs that developed DM. Additionally, the functional studies revealed that the variants alter expression of SP110 in blood cells.
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