Peer-reviewed veterinary case report
Genetic heart disease linked to early death in Belgian Shepherd
By Gurtner, Corinne et al.Ā·Published in GenesĀ·2020Ā·Institute of Animal PathologyĀ·View original on PubMed ā
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Original publication title: Missense Variant in Belgian Shepherd Dogs with Cardiomyopathy and Juvenile Mortality.
- Species:
- dog
Plain-English summary
Three Belgian Shepherd puppies died unexpectedly between six to eight weeks old after developing normally. Necropsy revealed abnormal material buildup in their organs, and one puppy showed signs of inflammation in the brain and intestines. Researchers suspect a genetic cause, as the puppies were closely related, and identified a specific genetic variant linked to this issue. This variant is associated with a condition that affects muscle function and energy production, similar to diseases seen in humans. The findings suggest that this genetic variant may be responsible for the early deaths in these puppies.
People also search for: Belgian Shepherd puppy death Ā· puppy genetic disorders Ā· signs of inflammation in puppies
Abstract
Dog puppy loss by the age of six to eight weeks after normal development is relatively uncommon. Necropsy findings in two spontaneously deceased Belgian Shepherd puppies indicated an abnormal accumulation of material in several organs. A third deceased puppy exhibited mild signs of an inflammation in the central nervous system and an enteritis. The puppies were closely related, raising the suspicion of a genetic cause. Pedigree analysis suggested a monogenic autosomal recessive inheritance. Combined linkage and homozygosity mapping assigned the most likely position of a potential genetic defect to 13 genome segments totaling 82 Mb. The genome of an affected puppy was sequenced and compared to 645 control genomes. Three private protein changing variants were found in the linked and homozygous regions. Targeted genotyping in 96 Belgian Shepherd dogs excluded two of these variants. The remaining variant,:1054G>A or p.Glu352Lys, was perfectly associated with the phenotype in a cohort of 474 Belgian Shepherd dogsencodes the mitochondrial tyrosyl-tRNA synthetase 2 and the predicted amino acid change replaces a negatively charged and evolutionary conserved glutamate at the surface of the tRNA binding domain of YARS2 with a positively charged lysine. Human patients with loss-of-function variants insuffer from myopathy, lactic acidosis, and sideroblastic anemia 2, a disease with clinical similarities to the phenotype of the studied dogs. The carrier frequency was 27.2% in the tested Belgian Shepherd dogs. Our data suggest:1054G>A as the candidate causative variant for the observed juvenile mortality.
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Search related cases āOriginal publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/32183361/