A missense variant in DGKG as a recessive functional variant for hepatic fibrinogen storage disease in Wagyu cattle

Autor: Joana G. P. Jacinto, Peter Wohlsein, Irene M. Häfliger, Michael Karl, Michael Pohlers, Lutz Plobner, Walter Grünberg, Cord Drögemüller
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: Journal of Veterinary Internal Medicine, Vol 37, Iss 6, Pp 2631-2637 (2023)
Druh dokumentu: article
ISSN: 1939-1676
0891-6640
DOI: 10.1111/jvim.16865
Popis: Abstract Hepatic fibrinogen storage disease (HFSD) was diagnosed in a 5‐month‐old Wagyu calf with a history of recurrent respiratory disease. It was characterized by lethargy, dehydration, acidemia, and increased liver enzyme activities. Histologically, disseminated hepatocytes were swollen and showed a single, sharply demarcated, faintly eosinophilic cytoplasmic inclusion with a ground‐glass appearance, with the nucleus in an eccentric position. Cytoplasmic inclusions did not stain with the periodic acid‐Schiff (PAS) reaction. Using a rabbit polyclonal antibody against fibrinogen, the cytoplasmic vacuoles in the hepatocytes stained intensely. Electron microscopy disclosed hepatocytes with membrane‐bound cytoplasmic inclusions filled with fine granular material interspersed with a few coarse‐grained electron‐dense granules. A trio whole‐genome sequencing approach identified a deleterious homozygous missense variant in DGKG (p.Thr721Ile). The allele frequency in 209 genotyped Wagyu was 7.2%. This is a report of a DGKG‐related recessive inherited disorder in cattle and adds DGKG to the list of candidate genes for HFSD in other species.
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